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Article

Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

Neuromuscular disorders : NMD - 1 Apr 2010

Geranmayeh Fatemeh, Clement Emma, Feng Lucy H, Sewry Caroline, Pagan Judith, Mein Rachael, Abbs Stephen, Brueton Louise, Childs Anne-Marie, Jungbluth Heinz, De Goede Christian G, Lynch Bryan, Lin Jean-Pierre, Chow Gabriel, Sousa Carlos de, O'Mahony Olivia, Majumdar Anirban, Straub Volker, Bushby Katherine, Muntoni Francesco

Abstract excerpt

Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. We report 51 patients with MDC1A and examine the relationship between degree of merosin expression, genotype and clinical features. Thirty-three patients had absence of merosin and 13 showed some...

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Source

Identifiers

PMID: 20207543
DOI: 10.1016/j.nmd.2010.02.001

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20207543-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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