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Article

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

PloS one - 1 Jan 2012

Gupta Vandana A, Kawahara Genri, Myers Jennifer A, Chen Aye T, Hall Thomas E, Manzini M Chiara, Currie Peter D, Zhou Yi, Zon Leonard I, Kunkel Louis M, Beggs Alan H

Abstract excerpt

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature. Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2). Laminin-α2 is an extracellular matrix protein that interacts with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Fibers, Skeletal

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Source

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Identifiers

PMID: 22952766
DOI: 10.1371/journal.pone.0043794
PMCID: PMC3428294

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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