Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)

scientific article published on 01 February 2002

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin) is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/SJ.EJHG.5200743
P698PubMed publication ID11938437

P2093author name stringPascale Guicheney
Valérie Allamand
P2860cites workMutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanQ24535942
Merosin and congenital muscular dystrophyQ28145060
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophyQ33680352
Animal models for muscular dystrophy: valuable tools for the development of therapiesQ34045919
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.Q47801479
The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophyQ48166448
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east ItalyQ71482663
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophyQ73918582
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular studyQ74601951
85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The NetherlandsQ77316172
P433issue2
P921main subjectcongenital muscular dystrophyQ1321884
congenital merosin-deficient muscular dystrophy 1AQ5811448
P304page(s)91-94
P577publication date2002-02-01
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleMerosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)
P478volume10

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cites work (P2860)
Q37555754212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.
Q49963380A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient.
Q88457883A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy
Q92592378A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report
Q36291506A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy
Q54210538Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin.
Q33922811Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin
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Q91387651Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A
Q88766665Child with Isolated Motor Delay: Look at the Neuroimage
Q91906240Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy
Q40556372Deletion of integrin α7 subunit does not aggravate the phenotype of laminin α2 chain-deficient mice
Q30767612Diagnostic approach to the congenital muscular dystrophies
Q24791491Diseased muscles that lack dystrophin or laminin-alpha2 have altered compositions and proliferation of mononuclear cell populations
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Q33787898Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy
Q37625936Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy
Q37411771Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.
Q90584743LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes
Q34282245Laminin regulates postnatal oligodendrocyte production by promoting oligodendrocyte progenitor survival in the subventricular zone
Q35952091Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy
Q36531788Laminin-211 in skeletal muscle function
Q42416006Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy.
Q82029853Myopathies with early contractures
Q54979072Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.
Q36462720New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
Q99554359Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy
Q37091285Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy
Q41541570Pericytes Stimulate Oligodendrocyte Progenitor Cell Differentiation during CNS Remyelination
Q42831325Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.
Q35201194Quantitative proteomic analysis reveals metabolic alterations, calcium dysregulation, and increased expression of extracellular matrix proteins in laminin α2 chain-deficient muscle
Q91911067Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report
Q22001192Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies
Q42468431The extracellular matrix protein laminin α2 regulates the maturation and function of the blood-brain barrier
Q24681141The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy

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