Atypical phenotype in two patients with LAMA2 mutations.

doi:10.1016/j.nmd.2014.01.004

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Article

Atypical phenotype in two patients with LAMA2 mutations.

Neuromuscular disorders : NMD - 1 May 2014

Marques Joana, Duarte Sofia T, Costa Sónia, Jacinto Sandra, Oliveira Jorge, Oliveira Márcia E, Santos Rosário, Bronze-da-Rocha Elsa, Silvestre Ana Rita, Calado Eulália, Evangelista Teresinha

Abstract excerpt

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients...

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Identifiers

PMID: 24534542
DOI: 10.1016/j.nmd.2014.01.004

Genes

LAMA2

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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.