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Article

Severe congenital muscular dystrophy in a LAMA2-mutated case.

Pediatric neurology - 1 Sept 2007

Di Blasi Claudia, van Alfen Nens, Colleoni Francesca, ter Laak Henk, Mora Marina

Abstract excerpt

Clinical features and molecular data are described for a patient with undetectable expression of laminin alpha2 chain (merosin) and severe congenital muscular dystrophy. Molecular analysis of the LAMA2 gene revealed two previously un-described mutations. The patient achieved independent sitting at age 2, but lost head balance at age 7; he was never able to stand unsupported. Cerebral magnetic resonance imaging...

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Source

Identifiers

PMID: 17765811
DOI: 10.1016/j.pediatrneurol.2007.05.008

Genes

LAMA2

Provenance

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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