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Article

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Genetic testing - 1 Jan 2007

Siala Olfa, Louhichi Nacim, Triki Chahnez, Morinière Madeleine, Rebai Ahmed, Richard Pascale, Guicheney Pascale, Baklouti Faouzi, Fakhfakh Faiza

Abstract excerpt

Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of neuromuscular disorders, with autosomal recessive inheritance. We report a patient with severe congenital muscular dystrophy and total deficiency in the laminin alpha2 chain. Genetic analyses showed a linkage to the MDC1A locus for the patient's family, and DNA sequencing revealed in the propositus of a new homozygous...

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Identifiers

PMID: 17949279
DOI: 10.1089/gte.2006.0517

Genes

LAMA2

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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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