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Article

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Clinical genetics - 1 Dec 2008

Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira M E, Moreira A, Coelho T, Ferreira J C, Fonseca M J, Barbosa C, Prats J, Aríztegui M L, Martins M L, Moreno T, Heinimann K, Barbot C, Pascual-Pascual S I, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E

Abstract excerpt

Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression in muscle, compatible with MDC1A. The combination...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18700894
DOI: 10.1111/j.1399-0004.2008.01068.x

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18700894-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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