Abstract is: Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
| class of disease | Q112193867 |
| disease | Q12136 |
| muscular dystrophy | Q1137767 |
| autosomal recessive disease | Q10267817 |
| P699 | Disease Ontology ID | DOID:0050557 |
| P673 | eMedicine ID | 1180214 |
| P2888 | exact match | http://identifiers.org/doid/DOID:0050557 |
| http://purl.obolibrary.org/obo/DOID_0050557 | ||
| http://www.orpha.net/ORDO/Orphanet_97242 | ||
| P4317 | GARD rare disease ID | 9138 |
| P668 | GeneReviews ID | NBK1291 |
| P1692 | ICD-9-CM | 359.0 |
| P665 | KEGG ID | H00590 |
| P6366 | Microsoft Academic ID | 2779768179 |
| 2908971527 | ||
| P492 | OMIM ID | 254100 |
| 254100 | ||
| P10283 | OpenAlex ID | C2779768179 |
| P1550 | Orphanet ID | 97242 |
| P4233 | PatientsLikeMe condition ID | cmd |
| P3417 | Quora topic ID | Congenital-Muscular-Dystrophy |
| P2892 | UMLS CUI | C2937300 |
| C0699743 | ||
| P11143 | WikiProjectMed ID | Congenital muscular dystrophy |
| P1995 | health specialty | neurology | Q83042 |
| P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
| Q831363 | Bethlem myopathy |
| Q109676398 | Collagen VI myopathy |
| Q1955377 | Fukuyama congenital muscular dystrophy |
| Q3711812 | Ullrich congenital muscular dystrophy |
| Q1629483 | Walker–Warburg syndrome |
| Q32139600 | arthrogryposis due to muscular dystrophy |
| Q5811448 | congenital merosin-deficient muscular dystrophy 1A |
| Q32139634 | congenital muscular dystrophy 1B |
| Q32139695 | congenital muscular dystrophy due to integrin alpha-7 deficiency |
| Q32139683 | congenital muscular dystrophy merosin-positive |
| Q1781515 | congenital muscular dystrophy type 1C |
| Q41516643 | congenital muscular dystrophy with cataracts and intellectual disability |
| Q55782123 | congenital muscular dystrophy-infantile cataract-hypogonadism syndrome |
| Q29014918 | dystroglycanopathy |
| Q27835675 | lamin A/C congenital muscular dystrophy |
| Q32139615 | megaconial type congenital muscular dystrophy |
| Q18553324 | muscular dystrophy-dystroglycanopathy |
| Q1781517 | muscular dystrophy-dystroglycanopathy type B1 |
| Q53844137 | muscular dystrophy-dystroglycanopathy type B2 |
| Q32139666 | muscular dystrophy-dystroglycanopathy type B6 |
| Q29982088 | rigid spine syndrome |
| Q48225211 | 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). |
| Q81297689 | 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands |
| Q53203173 | 158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands. |
| Q37555924 | 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands |
| Q72398226 | 22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993 |
| Q71719174 | 41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands |
| Q53341996 | 68th ENMC international workshop (5th international workshop): On congenital muscular dystrophy, 9-11 April 1999, Naarden, The Netherlands. |
| Q51952628 | 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands. |
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| Q48261562 | A Golgi study of the cerebral cortex in Fukuyama-type congenital muscular dystrophy, Walker-type "lissencephaly," and classical lissencephaly. |
| Q57728152 | A Novel Form of Familial Congenital Muscular Dystrophy in Two Adolescents |
| Q36260910 | A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. |
| Q88457883 | A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy |
| Q102066826 | A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy |
| Q51920210 | A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. |
| Q44994042 | A case of congenital muscular dystrophy with changes in the white matter of the brain |
| Q48508021 | A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. |
| Q53068305 | A congenital muscular dystrophy quality of life and caregiver assessment survey. |
| Q35040218 | A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis |
| Q70750420 | A form of congenital muscular dystrophy |
| Q70664926 | A genetic study of the Fukuyama type congenital muscular dystrophy |
| Q38394113 | A large series of immunohistochemically confirmed cases of congenital muscular dystrophy seen over a period of one decade |
| Q50240481 | A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. |
| Q48830676 | A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions. |
| Q51997198 | A new congenital muscular dystrophy with mitochondrial structural abnormalities. |
| Q48506359 | A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. |
| Q79868799 | A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex |
| Q37242943 | A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI. |
| Q92303650 | A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement |
| Q92592378 | A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report |
| Q36291506 | A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy |
| Q56600619 | A novel laminin 2 isoform in severe laminin 2 deficient congenital muscular dystrophy |
| Q28143402 | A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy |
| Q37646939 | A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. |
| Q48715541 | A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement |
| Q58452154 | A rapid PCR method for genotyping the Largemyd mouse, a model of glycosylation-deficient congenital muscular dystrophy |
| Q24314890 | A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation |
| Q92467152 | A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients |
| Q72268394 | Abnormality of cerebral gangliosides in Fukuyama type congenital muscular dystrophy |
| Q47644883 | Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population |
| Q34679349 | Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy |
| Q63965591 | Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene |
| Q74185143 | Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy (CI-CMD) with merosin deficiency |
| Q33922811 | Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin |
| Q24320265 | An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy |
| Q73569111 | An atypical case of partial merosin deficiency congenital muscular dystrophy |
| Q70804125 | An electron microscopical study of the T-system in biopsied muscles from Fukuyama type congenital muscular dystrophy |
| Q48223898 | An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. |
| Q39559269 | Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-α2-deficient congenital muscular dystrophy (MDC1A). |
| Q24602606 | Apoptosis inhibitors and mini-agrin have additive benefits in congenital muscular dystrophy mice |
| Q28291726 | Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus |
| Q96222742 | Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry |
| Q30455033 | Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy |
| Q34145035 | Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. |
| Q71340219 | Association of congenital muscular dystrophy with hypoplasia of the lateral abdominal wall musculature and hypoplasia of the external genitalia |
| Q30638624 | Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype |
| Q71562398 | Autopsy case of congenital muscular dystrophy |
| Q37711819 | B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations |
| Q71800113 | Basement membrane abnormality in merosin-negative congenital muscular dystrophy |
| Q33995531 | Bcl-2 inhibits the innate immune response during early pathogenesis of murine congenital muscular dystrophy |
| Q48427255 | Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D. |
| Q69028737 | Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification |
| Q72309036 | Benign congenital muscular dystrophy: a special form of congenital hypotonia |
| Q41854808 | Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells |
| Q98464776 | Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models |
| Q56232692 | Brain MRI features of merosin-negative congenital muscular dystrophy |
| Q28145214 | Breached cerebral glia limitans-basal lamina complex in Fukuyama-type congenital muscular dystrophy |
| Q33792182 | Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis |
| Q48470675 | CNS in congenital muscular dystrophy without mental retardation |
| Q49711805 | COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. |
| Q91387651 | Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A |
| Q33589672 | Central sleep apnoea in congenital muscular dystrophy |
| Q30558349 | Changes in cerebral white matter in a case of congenital muscular dystrophy (non-Fukuyama type). |
| Q73778882 | Changes of laminin beta 2 chain expression in congenital muscular dystrophy |
| Q34910568 | Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy |
| Q95658360 | Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant |
| Q73458333 | Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy |
| Q48400238 | Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. |
| Q70637206 | Clinical and ultrastructural findings in congenital muscular dystrophy |
| Q41927957 | Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients |
| Q71483683 | Clinical contribution to the knowledge of De Lange type congenital muscular dystrophy |
| Q71791406 | Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal |
| Q43169303 | Clinical, molecular pathological and genetic analyses of a Chinese family with congenital muscular dystrophy type 1A |
| Q98624163 | Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A) |
| Q51980447 | Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. |
| Q34551175 | Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel |
| Q36275198 | Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan |
| Q48407122 | Congenital Muscular Dystrophy 1D Causes Matrix Metalloproteinase Activation And Blood-Brain Barrier Impairment |
| Q57394328 | Congenital Muscular Dystrophy Associated With Merosin Deficiency |
| Q28276868 | Congenital Muscular Dystrophy Overview |
| Q91637921 | Congenital Muscular Dystrophy and Congenital Myopathy |
| Q92770935 | Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene |
| Q68466570 | Congenital Muscular Dystrophy with Cerebellar Atrophy |
| Q67430108 | Congenital Muscular Dystrophy: A Clinico-Pathological and Follow-Up Study of 15 Patients |
| Q24308069 | Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy |
| Q70679987 | Congenital muscular dystrophy (CMD) - a collagen formative disease? |
| Q48130387 | Congenital muscular dystrophy (Fukuyama type)--changes in the white matter low density on CT. |
| Q45142510 | Congenital muscular dystrophy (Fukuyama type). Quantitative study of the muscular tissue |
| Q70823999 | Congenital muscular dystrophy (Fukuyama type). Repeated CT studies in 19 children |
| Q67380286 | Congenital muscular dystrophy (Fukuyama's type) |
| Q69802025 | Congenital muscular dystrophy (non-Fukuyama type) in Turkey: a clinical and pathological evaluation |
| Q52017081 | Congenital muscular dystrophy (non-Fukuyama type): a case report. |
| Q48465528 | Congenital muscular dystrophy and cerebellar atrophy |
| Q58202825 | Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers |
| Q41933364 | Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile |
| Q56232743 | Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family |
| Q69934821 | Congenital muscular dystrophy and epidermolysis bullosa simplex |
| Q51197443 | Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients. |
| Q33940640 | Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations |
| Q41928540 | Congenital muscular dystrophy and severe central nervous system atrophy in two siblings |
| Q48379271 | Congenital muscular dystrophy as a disease of the central nervous system |
| Q41924242 | Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. |
| Q72770827 | Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis |
| Q69971204 | Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita |
| Q44726471 | Congenital muscular dystrophy associated with micropolygyria - report of two cases |
| Q68296225 | Congenital muscular dystrophy associated with micropolygyria of the cerebrum and cerebellum |
| Q45226643 | Congenital muscular dystrophy in Arab children |
| Q44084332 | Congenital muscular dystrophy in Israeli families. |
| Q52184988 | Congenital muscular dystrophy in Jordanian children. |
| Q68028379 | Congenital muscular dystrophy in Marinesco-Sjögren syndrome |
| Q81711327 | Congenital muscular dystrophy in a new age |
| Q48144865 | Congenital muscular dystrophy of a non-Fukuyama type |
| Q48130373 | Congenital muscular dystrophy of a non-Fukuyama type with characteristic CT images |
| Q48409011 | Congenital muscular dystrophy of a non-Fukuyama type with white matter hyperlucency on CT scan. |
| Q69414641 | Congenital muscular dystrophy of non-Fukuyama type with characteristic CT images |
| Q42520136 | Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. |
| Q47215034 | Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation. |
| Q68090959 | Congenital muscular dystrophy presenting with respiratory failure |
| Q71051488 | Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining |
| Q37725152 | Congenital muscular dystrophy type 1A with residual merosin expression. |
| Q34694737 | Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene |
| Q48496183 | Congenital muscular dystrophy with abnormal radiographic myelin pattern |
| Q44122955 | Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. |
| Q44013523 | Congenital muscular dystrophy with arachnodactyly |
| Q41925636 | Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient. |
| Q39803250 | Congenital muscular dystrophy with central nervous system involvement: case report |
| Q48411090 | Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome). |
| Q49111590 | Congenital muscular dystrophy with cerebral involvement--report of a case of "occidental type cerebromuscular dystrophy"? |
| Q62554893 | Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency |
| Q52093591 | Congenital muscular dystrophy with cerebral white matter spongiosis. |
| Q47860424 | Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children |
| Q55880074 | Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy |
| Q48177980 | Congenital muscular dystrophy with distinct CNS involvement |
| Q46267281 | Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort |
| Q50673867 | Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene. |
| Q71597767 | Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases |
| Q48396992 | Congenital muscular dystrophy with eye and brain malformations in six Dutch patients |
| Q36001949 | Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. |
| Q48926283 | Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. |
| Q37167371 | Congenital muscular dystrophy with inflammation: Diagnostic considerations |
| Q48881167 | Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry |
| Q69677686 | Congenital muscular dystrophy with leukoencephalopathy |
| Q59281293 | Congenital muscular dystrophy with merosin deficiency |
| Q30982444 | Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging |
| Q63435556 | Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients |
| Q51922788 | Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene. |
| Q34729678 | Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease |
| Q48616760 | Congenital muscular dystrophy with partial deficiency of merosin |
| Q47730686 | Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy |
| Q71864959 | Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy |
| Q74601951 | Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study |
| Q51972325 | Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity? |
| Q48540378 | Congenital muscular dystrophy with severe infantile scoliosis |
| Q33715001 | Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings |
| Q47937228 | Congenital muscular dystrophy with short stature, proximal contractures and distal laxity |
| Q59135475 | Congenital muscular dystrophy with syringomyelia |
| Q48315328 | Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities? |
| Q48685981 | Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families |
| Q42972498 | Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. |
| Q48362804 | Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept |
| Q66946918 | Congenital muscular dystrophy: Case reports and reappraisal |
| Q71051493 | Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form |
| Q59135484 | Congenital muscular dystrophy: Correlation of muscle biopsy and clinical features |
| Q70314349 | Congenital muscular dystrophy: a clinicopathologic report of 24 cases |
| Q84571893 | Congenital muscular dystrophy: a parent's hopes and fears |
| Q41225036 | Congenital muscular dystrophy: a review of the literature |
| Q73425499 | Congenital muscular dystrophy: an expanding clinical syndrome |
| Q36946384 | Congenital muscular dystrophy: brain alterations in an unselected series of Western patients |
| Q27023097 | Congenital muscular dystrophy: from muscle to brain |
| Q47801497 | Congenital muscular dystrophy: from rags to riches |
| Q37135982 | Congenital muscular dystrophy: light and electron microscopic observations |
| Q45865539 | Congenital muscular dystrophy: mini-agrin delivers in mice |
| Q36114687 | Congenital muscular dystrophy: molecular and cellular aspects. |
| Q70981440 | Congenital muscular dystrophy: report of one case |
| Q73800877 | Congenital muscular dystrophy: searching for a definition after 98 years |
| Q41452020 | Congenital muscular dystrophy: the importance of early diagnosis and orthopaedic management in the long-term prognosis |
| Q48516610 | Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency |
| Q90908922 | Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy |
| Q64285884 | Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation |
| Q86047473 | Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy |
| Q40120224 | Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism |
| Q42344499 | Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan |
| Q48647852 | Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). |
| Q91906240 | Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy |
| Q43818931 | Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle |
| Q57394329 | Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy |
| Q71980382 | Deficiency of laminin α2‐Chain mRNA in muscle in a patient with merosin‐negative congenital muscular dystrophy |
| Q71290204 | Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations |
| Q48647998 | Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin |
| Q68607574 | Degradation of connectin (titin) in Fukuyama type congenital muscular dystrophy: immunochemical study with monoclonal antibodies |
| Q70938451 | Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy |
| Q88071211 | Dexmedetomidine, high-flow nasal oxygen and sugammadex-reversal of rocuronium: overcoming anaesthetic challenges in a parturient with congenital muscular dystrophy presenting for caesarean section |
| Q80412916 | Diagnosis and etiology of congenital muscular dystrophy |
| Q39783164 | Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. |
| Q79663917 | Diagnosis of congenital muscular dystrophy and clinical significance of merosin expression |
| Q70989173 | Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy |
| Q89450723 | Differentiating Congenital Myopathy from Congenital Muscular Dystrophy |
| Q42517540 | Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency |
| Q33855932 | Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient. |
| Q49257202 | Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). |
| Q72051883 | Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up |
| Q48035267 | Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. |
| Q91616565 | Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy |
| Q81420170 | Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases |
| Q72860370 | Dystrophinopathy presenting as congenital muscular dystrophy |
| Q75382910 | EMG and nerve conduction studies in children with congenital muscular dystrophy |
| Q43946067 | Early autism and congenital muscular dystrophy: a clinical case |
| Q90497140 | Early skeletal muscle pathology and disease progress in the dy3K/dy3K mouse model of congenital muscular dystrophy with laminin α2 chain-deficiency |
| Q58618227 | Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study |
| Q85605188 | Electrical impedance myography discriminates congenital muscular dystrophy from controls |
| Q46219328 | Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis. |
| Q39534750 | Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations |
| Q48259029 | Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents |
| Q67054191 | Etiology of congenital muscular dystrophy (Fukuyama type) |
| Q77295606 | Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy |
| Q86515036 | Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Asso |
| Q35304917 | Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Asso |
| Q45739674 | Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion |
| Q28249765 | Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy |
| Q71791408 | Expression of laminin subunits in congenital muscular dystrophy |
| Q73254785 | Expression of nitric oxide synthase in the spinal cord in C57BL/6J mice with congenital muscular dystrophy |
| Q53635952 | Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? |
| Q48355720 | FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts |
| Q71952879 | Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy |
| Q39881864 | Familial congenital muscular dystrophy caused by phosphofructokinase deficiency |
| Q74330860 | Familial congenital muscular dystrophy with gonadal dysgenesis |
| Q53612209 | Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. |
| Q42685484 | Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). |
| Q73410824 | Four cases of Fukuyama type congenital muscular dystrophy with edema |
| Q68553125 | Freeze-fracture analysis of cholesterol in muscle plasma membrane of Fukuyama-type congenital muscular dystrophy |
| Q93637620 | Freeze-fracture studies of muscle plasma membrane in Fukuyama-type congenital muscular dystrophy |
| Q80533253 | Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy |
| Q51832718 | Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype |
| Q51976737 | Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. |
| Q28138251 | Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy |
| Q51935097 | Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. |
| Q39722168 | Fukuyama type Congenital Muscular Dystrophy as a natural model of childhood epilepsy |
| Q44214813 | Fukuyama type congenital muscular dystrophy in a Turkish child |
| Q40713835 | Fukuyama type congenital muscular dystrophy with central-temporal EEG foci (rolandic spikes). |
| Q70455756 | Fukuyama-type congenital muscular dystrophy |
| Q93859495 | Fukuyama-type congenital muscular dystrophy |
| Q35189975 | Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy |
| Q56504431 | Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan |
| Q42501887 | Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome |
| Q40768648 | Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Commentary to Kimura's paper (pp. 182-91) |
| Q48559074 | Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil |
| Q42479480 | Fukuyama-type congenital muscular dystrophy: close relation between changes in the muscle basal lamina and plasma membrane |
| Q33842728 | Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration |
| Q92877265 | Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy |
| Q37762284 | Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs |
| Q45921547 | Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing. |
| Q63531129 | Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophy (L-CMD) |
| Q71482663 | Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy |
| Q34722788 | Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome |
| Q51763520 | Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. |
| Q57640124 | Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis |
| Q57317698 | Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients |
| Q35065134 | Glycomic analyses of mouse models of congenital muscular dystrophy |
| Q41924831 | Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases. |
| Q39120926 | Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-α2 chain-null congenital muscular dystrophy mice. |
| Q33745931 | Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy |
| Q64248716 | Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients |
| Q24538984 | Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. |
| Q37531866 | Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research |
| Q67865136 | Immunocytochemical analysis of dystrophin in congenital muscular dystrophy |
| Q70246734 | Immunofluorescent autopsy study of congenital muscular dystrophy |
| Q70835527 | Immunohistochemical alterations of dystrophin in congenital muscular dystrophy |
| Q64449953 | Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy |
| Q43122948 | Improved muscle strength and mobility in the dy(2J)/dy(2J) mouse with merosin deficient congenital muscular dystrophy treated with Glatiramer acetate |
| Q33787898 | Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy |
| Q71714607 | Inflammatory infiltration in Fukuyama type congenital muscular dystrophy |
| Q51137321 | Integrin dysregulation as a possible driver of matrix remodeling in Laminin-deficient congenital muscular dystrophy (MDC1A). |
| Q28249995 | Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy |
| Q82984339 | Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A |
| Q48275910 | Isolation and characterization of the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene |
| Q58278225 | LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients |
| Q54636928 | LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. |
| Q80795893 | LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy |
| Q80133755 | LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy |
| Q56232679 | LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression |
| Q48414856 | LAMA2-related congenital muscular dystrophy complicated by West syndrome |
| Q104743503 | Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth |
| Q47801486 | Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases |
| Q77879277 | Laminin alpha2 deficient congenital muscular dystrophy: prenatal diagnosis |
| Q89963755 | Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics |
| Q96023104 | Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of Laminin-α2 related congenital muscular dystrophy |
| Q35952091 | Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy |
| Q38649036 | Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment |
| Q48835145 | Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome? |
| Q40659560 | Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature |
| Q48757704 | Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome? |
| Q71387625 | Light and electron microscopic studies of congenital muscular dystrophy |
| Q77937776 | Limitation of eye movement in merosin-deficient congenital muscular dystrophy |
| Q42037747 | Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. |
| Q69186866 | Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome |
| Q57319948 | Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3 |
| Q28257920 | Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 |
| Q73299431 | Localization of laminin chains in the human retina: possible implications for congenital muscular dystrophy associated with alpha 2-chain of laminin deficiency |
| Q71802533 | Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency |
| Q57398314 | Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping |
| Q54515938 | Losartan, a therapeutic candidate in congenital muscular dystrophy: studies in the dy(2J) /dy(2J) mouse. |
| Q86598237 | Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy |
| Q30560481 | MR imaging findings in children with merosin-deficient congenital muscular dystrophy |
| Q73738110 | MR imaging of pelvic and thigh muscles in congenital muscular dystrophy |
| Q67983307 | MR imaging of the brain in Fukuyama-type congenital muscular dystrophy |
| Q48366066 | MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency: metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter |
| Q28548194 | Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A) |
| Q64233103 | Mammalian O-mannosyl glycans: Biochemistry and glycopathology |
| Q73918582 | Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy |
| Q38128966 | Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. |
| Q92573471 | Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients |
| Q28145060 | Merosin and congenital muscular dystrophy |
| Q57588188 | Merosin deficient congenital muscular dystrophy: Clinical, neuroimaging and immunohistochemical study of 8 Egyptian pediatric patients |
| Q44677855 | Merosin negative congenital muscular dystrophy: a short report |
| Q48713550 | Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter |
| Q48971094 | Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system |
| Q58866618 | Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI |
| Q36571602 | Merosin-deficient congenital muscular dystrophy (MDCMD): a case report with MRI, MRS and DTI findings |
| Q47621427 | Merosin-deficient congenital muscular dystrophy and cortical dysplasia |
| Q48224285 | Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study |
| Q48954053 | Merosin-deficient congenital muscular dystrophy in Korea |
| Q42825047 | Merosin-deficient congenital muscular dystrophy in an Omani boy |
| Q81125115 | Merosin-deficient congenital muscular dystrophy in two siblings |
| Q46564430 | Merosin-deficient congenital muscular dystrophy type 1A. |
| Q37289101 | Merosin-deficient congenital muscular dystrophy type 1A: A case report |
| Q42416006 | Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. |
| Q51972714 | Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. |
| Q28216707 | Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients |
| Q47959513 | Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings |
| Q77894566 | Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin) |
| Q85847451 | Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene |
| Q74307848 | Merosin-deficient congenital muscular dystrophy: neuropathology case reports |
| Q48224297 | Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging |
| Q56232776 | Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities |
| Q48971110 | Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. |
| Q36629201 | Merosin-negative congenital muscular dystrophy: Report of five cases |
| Q31121440 | Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain |
| Q46464136 | Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings |
| Q49090489 | Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report |
| Q41925670 | Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation |
| Q73573252 | Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families |
| Q41923466 | Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings |
| Q48224272 | Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation |
| Q48223274 | Merosin-positive congenital muscular dystrophy: a large inbred family |
| Q48209872 | Merosin-positive congenital muscular dystrophy: neuroimaging findings |
| Q36027867 | Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. |
| Q28238601 | Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain |
| Q48570259 | Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation |
| Q52016216 | Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. |
| Q71933902 | Morphometric study of the corpus callosum in Fukuyama type congenital muscular dystrophy by magnetic resonance imaging |
| Q41116514 | Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report |
| Q37584302 | Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy |
| Q70568955 | Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement |
| Q40131300 | Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem |
| Q57562593 | Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype |
| Q69554083 | Muscle regeneration and satellite cells in Fukuyama type congenital muscular dystrophy |
| Q52016712 | Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic |
| Q34994784 | Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A |
| Q91655901 | Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy |
| Q24321692 | Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan |
| Q38965097 | Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy |
| Q30032671 | Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment |
| Q33954327 | Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. |
| Q24535942 | Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan |
| Q77346768 | Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C |
| Q28206027 | Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan |
| Q24308817 | Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy |
| Q47073612 | NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. |
| Q52685684 | NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project. |
| Q52053850 | Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. |
| Q36462720 | New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families |
| Q34651643 | New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation |
| Q77557277 | Nonmuscular involvement in merosin-negative congenital muscular dystrophy |
| Q44590898 | Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy: a 10-year follow-up |
| Q54090777 | Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy |
| Q56475863 | Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy |
| Q99554359 | Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy |
| Q47697492 | Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). |
| Q39190242 | Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families |
| Q77638735 | Occidental-type cerebromuscular dystrophy versus congenital muscular dystrophy with merosin deficiency |
| Q48728624 | Ocular manifestations of congenital muscular dystrophy (Fukuyama type). |
| Q34769964 | Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy |
| Q83285087 | Orthognathic surgery and partial glossectomy in a patient with merosin-deficient congenital muscular dystrophy |
| Q35928246 | Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A. |
| Q44314338 | Oxidative stress in the brain of Fukuyama type congenital muscular dystrophy: immunohistochemical study on astrocytes |
| Q63531168 | P2.10 A new form of congenital muscular dystrophy with subsarcolemmal inclusions arising from disintegrated myonuclei |
| Q33680352 | PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy |
| Q48400235 | POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum |
| Q46926225 | POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability |
| Q41938361 | POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation |
| Q95310979 | Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs |
| Q37091285 | Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy |
| Q41456452 | Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse |
| Q24602380 | Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression |
| Q48739863 | Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes |
| Q72302068 | Prenatal diagnosis in congenital muscular dystrophy |
| Q53269443 | Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. |
| Q73419733 | Prenatal diagnosis in merosin-deficient congenital muscular dystrophy |
| Q48830604 | Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis |
| Q48463020 | Prenatal diagnosis of Fukuyama type congenital muscular dystrophy in eight Japanese families by haplotype analysis using new markers closest to the gene |
| Q48484709 | Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis |
| Q69914802 | Prenatal diagnosis of congenital muscular dystrophy producing arthrogryposis |
| Q71524909 | Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy |
| Q95576594 | Pressure-support ventilation in a child with merosin-deficient congenital muscular dystrophy under sevoflurane anesthesia |
| Q28256516 | Prevalence of congenital muscular dystrophy in Italy: a population study |
| Q58036335 | Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan |
| Q55031932 | Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. |
| Q97552239 | Randomized Trial of Lung Hyperinflation Therapy in Children with Congenital Muscular Dystrophy |
| Q91911067 | Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report |
| Q71360390 | Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2 |
| Q35237050 | Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine |
| Q35889527 | Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. |
| Q33678375 | Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy |
| Q38000356 | Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. |
| Q48385528 | Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy |
| Q48020680 | Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I. |
| Q34032485 | Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy |
| Q39012037 | Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients |
| Q41854949 | Roles of fukutin, the gene responsible for fukuyama-type congenital muscular dystrophy, in neurons: possible involvement in synaptic function and neuronal migration |
| Q28137693 | Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle |
| Q28205600 | Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy |
| Q72313522 | Severe Congenital Muscular Dystrophy |
| Q63457001 | Severe Congenital Muscular Dystrophy in a LAMA2-Mutated Case |
| Q42635022 | Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level |
| Q91330241 | Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy |
| Q48366962 | Severe classical congenital muscular dystrophy and merosin expression. |
| Q44325132 | Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene |
| Q48595029 | Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency |
| Q50658802 | Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations. |
| Q72337142 | Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status |
| Q28297242 | Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations |
| Q48382697 | Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin |
| Q28296180 | Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy |
| Q35882763 | Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. |
| Q67731620 | Survey of Fukuyama type congenital muscular dystrophy in Tokyo |
| Q61988155 | T.P.6.03 Restoring cell-basal lamina interaction to rescue tissue degeneration in congenital muscular dystrophy |
| Q85445096 | Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient |
| Q90031440 | Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy |
| Q73443120 | The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy |
| Q41919724 | The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. |
| Q99631566 | The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes |
| Q57562609 | The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I |
| Q71338014 | The protein defect in congenital muscular dystrophy |
| Q73215544 | The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy |
| Q24681141 | The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy |
| Q79456333 | Thymus acetylcholinesterase activity is reduced in mice with congenital muscular dystrophy |
| Q42489627 | Transgenic overexpression of the α7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. |
| Q50901308 | Triggering regeneration and tackling apoptosis: a combinatorial approach to treating congenital muscular dystrophy type 1 A. |
| Q52097049 | Two dutch siblings with congenital muscular dystrophy (Fukuyama type) |
| Q48713560 | Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain |
| Q67973495 | Vascular alterations in Fukuyama type congenital muscular dystrophy |
| Q74297218 | Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy |
| Q48419660 | Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities |
| Q71870779 | White matter abnormalities in congenital muscular dystrophy |
| Q101123893 | Whole Exome Analyses of Congenital Muscular Dystrophy and Congenital Myopathy Patients from India Reveal a Wide Spectrum of Known and Novel Mutations |
| Q35216340 | Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement |
| Q48777378 | YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. |
| Q89373020 | Z-shaped brainstem and other magnetic resonance imaging findings in congenital muscular dystrophy |
| Q98189903 | Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A) |
| Q70626293 | ["An autopsy case of severe congenital muscular dystrophy with arthrogryposis multiplex"] |
| Q70751628 | [2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases] |
| Q68028648 | [A case of Fukuyama type congenital muscular dystrophy with progressive changes in brain CT scanning] |
| Q69613465 | [A case of congenital muscular dystrophy (Fukuyama type) complicated by cystinuria] |
| Q54217866 | [A case of congenital muscular dystrophy associated with hydrocephalus--CSF dynamics and surgical treatment] |
| Q72920825 | [A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness] |
| Q72991473 | [A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy] |
| Q69304327 | [A thought on meals, memory of a daughter who suffered from congenital muscular dystrophy and deglutition disorder] |
| Q69567179 | [An adult case of benign congenital muscular dystrophy (non-Fukuyama type)] |
| Q80972155 | [Analysis of the expression of collagen VI in congenital muscular dystrophy] |
| Q70667758 | [Anesthesia-induced rhabdomyolysis in a patient with Fukuyama-type congenital muscular dystrophy] |
| Q73062012 | [Anesthetic management of a pediatric patient with non-Fukuyama type congenital muscular dystrophy] |
| Q71320322 | [Case of congenital muscular dystrophy in a 6-year-old girl --atypical Fukuyama type (subtype IV)] |
| Q74502171 | [Changes in the clinical picture of Fukuyama type. Congenital muscular dystrophy in its advanced stage: effectiveness of mechanical ventilation systems] |
| Q91415261 | [Clinical features and FKRP mutations of congenital muscular dystrophy 1C] |
| Q96638705 | [Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review] |
| Q55026762 | [Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene]. |
| Q73285425 | [Congenital muscular dystrophy (CMD)] |
| Q69745105 | [Congenital muscular dystrophy (Fukuyama type) with imperforate anus] |
| Q73106039 | [Congenital muscular dystrophy (Fukuyama type)] |
| Q79670288 | [Congenital muscular dystrophy and alpha-dystroglycanopathy] |
| Q74657368 | [Congenital muscular dystrophy and merosin deficiency] |
| Q83047318 | [Congenital muscular dystrophy complicated with tetanized spinal column in a case] |
| Q81225299 | [Congenital muscular dystrophy with laminin-a2 deficiency in early infancy: diagnosis and long-term follow-up] |
| Q72354666 | [Congenital muscular dystrophy with leukoencephalopathy] |
| Q71320353 | [Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis] |
| Q67881358 | [Congenital muscular dystrophy: clinical study of 17 patients] |
| Q67884067 | [Congenital muscular dystrophy: histochemical study of the skeletal muscle in 17 patients] |
| Q72384968 | [Congenital muscular dystrophy: report on 10 cases] |
| Q68410131 | [Cranial X-ray CT and MRI in congenital muscular dystrophy] |
| Q74766782 | [Dystrophinopathies, congenital muscular dystrophy, limb-girdle dystrophies: updated classification] |
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| Arabic (ar / Q13955) | حثل عضلي خلقي | wikipedia |
| Kongenitalna mišićna distrofija | wikipedia | |
| Catalan (ca / Q7026) | Distròfia muscular congènita | wikipedia |
| Kongenitale Muskeldystrophie | wikipedia | |
| Congenital muscular dystrophy | wikipedia | |
| Distrofia muscular congénita | wikipedia | |
| Dystrophies musculaires congénitales | wikipedia | |
| 先天性筋ジストロフィー | wikipedia | |
| mk | Вродена мускулна дистрофија | wikipedia |
| Distrofia muscular congénita | wikipedia | |
| Kongenital muskeldystrofi | wikipedia |
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