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Article

LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2009

Vigliano Piernanda, Dassi Patrizia, Di Blasi Claudia, Mora Marina, Jarre Laura

Abstract excerpt

Merosin-deficient congenital muscular dystrophy (MD) type 1A (MDC1A) is one of the most frequent forms of CMD in Western countries. The classical form, characterized by a total lack of laminin alpha2 chain expression, usually shows severe clinical features; cases with complete laminin alpha2 deficiency and mild phenotype have also been reported, although the mechanisms underlying the lack of genotype-phenotype...

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Source

Identifiers

PMID: 18406646
DOI: 10.1016/j.ejpn.2008.01.010

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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