Abstract is: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; fifteen cases were first described on 1960 by Dr. . FCMD mainly affects the brain, eyes, and muscles, in particular, the disorder affects development of the skeletal muscles leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the FCMD gene). Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan. One out of every 90 people in Japan is a heterozygous carrier.
| rare disease | Q929833 |
| class of disease | Q112193867 |
| genetic disease | Q200779 |
| muscular dystrophy | Q1137767 |
| congenital muscular dystrophy | Q1321884 |
| congenital muscular dystrophy-dystroglycanopathy type A | Q66084925 |
| P699 | Disease Ontology ID | DOID:0050559 |
| P557 | DiseasesDB | 31555 |
| P2888 | exact match | http://identifiers.org/doid/DOID:0050559 |
| http://purl.obolibrary.org/obo/DOID_0050559 | ||
| http://www.orpha.net/ORDO/Orphanet_272 | ||
| P646 | Freebase ID | /m/052f2h |
| P4317 | GARD rare disease ID | 6475 |
| 2411 | ||
| P7464 | Genetics Home Reference Conditions ID | fukuyama-congenital-muscular-dystrophy |
| P665 | KEGG ID | H01957 |
| P6366 | Microsoft Academic ID | 2777684323 |
| P5270 | Mondo ID | MONDO_0023204 |
| P1748 | NCI Thesaurus ID | C126741 |
| P492 | OMIM ID | 253800 |
| 253800 | ||
| P1550 | Orphanet ID | 272 |
| P11430 | UniProt disease ID | DI-00364 |
| P11143 | WikiProjectMed ID | Fukuyama congenital muscular dystrophy |
| P2293 | genetic association | FKTN | Q15319826 |
| P138 | named after | Yukio Fukuyama | Q10394760 |
| P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
| Q43979302 | A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene |
| Q42769994 | A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms |
| Q54720360 | A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. |
| Q90131555 | A short form of gross motor function measure for Fukuyama congenital muscular dystrophy |
| Q43813529 | A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child |
| Q92951459 | Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy |
| Q48656802 | Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains |
| Q73054792 | Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy |
| Q34390453 | Brain MR in Fukuyama congenital muscular dystrophy. |
| Q31044887 | Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy |
| Q56232780 | Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions |
| Q41833665 | Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. |
| Q48686619 | Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy |
| Q52021931 | Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. |
| Q81216984 | Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy |
| Q34149744 | Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy |
| Q41253593 | Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis |
| Q42517399 | Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). |
| Q48210154 | Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan |
| Q72229346 | Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy |
| Q48676665 | Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy |
| Q42439618 | Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy |
| Q98157948 | Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy |
| Q48260397 | Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients |
| Q48514598 | Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy |
| Q84751208 | Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient |
| Q51418471 | Fukutin mutations in Fukuyama congenital muscular dystrophy do not cause noncompaction. |
| Q26827080 | Fukuyama Congenital Muscular Dystrophy |
| Q44560110 | Fukuyama congenital muscular dystrophy in two Australian female siblings |
| Q32066287 | Fukuyama congenital muscular dystrophy: a neuroradiologic review |
| Q73542623 | Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy |
| Q73806938 | Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy |
| Q40422702 | Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin |
| Q48277389 | Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study |
| Q104072675 | Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy |
| Q48942999 | Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report |
| Q48651469 | Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation |
| Q42526357 | Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus |
| Q48535266 | MRI findings in Fukuyama congenital muscular dystrophy: a rare case report |
| Q59876129 | National registry of patients with Fukuyama congenital muscular dystrophy in Japan |
| Q95317493 | New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies |
| Q47725310 | Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy |
| Q37580727 | Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly |
| Q44419465 | Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report |
| Q73157681 | Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy |
| Q36791115 | Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy |
| Q36434498 | Prenatal diagnosis of Fukuyama congenital muscular dystrophy |
| Q54513559 | Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. |
| Q90754300 | Renal dysfunction is rare in Fukuyama congenital muscular dystrophy |
| Q34493850 | Respiratory management of patients with Fukuyama congenital muscular dystrophy |
| Q49092162 | Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy |
| Q48621125 | Spinal correction in patients with Fukuyama congenital muscular dystrophy |
| Q47752900 | Spinal fusion in a patient with Fukuyama congenital muscular dystrophy |
| Q28139770 | The Fukuyama congenital muscular dystrophy story |
| Q47886073 | The gross motor function measure is valid for Fukuyama congenital muscular dystrophy |
| Q46797674 | The whole story of discovery of Fukuyama congenital muscular dystrophy |
| Q70732661 | [Causes of death in Fukuyama congenital muscular dystrophy] |
| Q79766238 | [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies] |
| Q80580944 | [Fukuyama congenital muscular dystrophy--history and perspectives] |
| Q77524206 | [Identification of a gene for Fukuyama congenital muscular dystrophy and its pathomechanism] |
| Q95484947 | [Immunohistochemical analysis of brainstem functions in autopsy cases of Fukuyama congenital muscular dystrophy] |
| Q74510064 | [Other non-Fukuyama congenital muscular dystrophy] |
| Q53352609 | [Pathomechanism and therapeutic strategy of Fukuyama congenital muscular dystrophy and related disorders]. |
| Q95418762 | [Total intravenous anesthesia for a patient with Fukuyama congenital muscular dystrophy undergoing scoliosis surgery] |
| Q15319826 | FKTN | genetic association | P2293 |
| Arabic (ar / Q13955) | حثل فوكوياما العضلي الخلقي | wikipedia |
| Muskeldystrophie Typ Fukuyama | wikipedia | |
| Fukuyama congenital muscular dystrophy | wikipedia | |
| Syndrome de Fukuyama | wikipedia | |
| 福山型先天性筋ジストロフィー | wikipedia | |
| Wrodzona dystrofia mięśniowa Fukuyamy | wikipedia |
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