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Article

Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene.

Journal of human genetics - 1 Jan 2003

Coral-Vazquez Ramon M, Rosas-Vargas Haydee, Meza-Espinosa Pedro, Mendoza Irma, Huicochea Juan C, Ramon Guillermo, Salamanca Fabio

Abstract excerpt

The congenital muscular dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders. Approximately one half of cases diagnosed with classic CMD show primary deficiency of the laminin alpha2 chain of merosin. Complete absence of this protein is usually associated with a severe ph...

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Source

Identifiers

PMID: 12601554
DOI: 10.1007/s100380300013

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12601554-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene.PMID 12601554Read ↗

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