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Article

A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.

Neuromuscular disorders : NMD - 1 Jul 2021

Specht Sabine, Duff Jennifer, Charlton Richard, Polvikoski Tuomo, Barresi Rita, Töpf Ana, Straub Volker

Abstract excerpt

Recessive mutations in the LAMA2 gene lead to congenital muscular dystrophy type 1A and limb girdle muscular dystrophy R23 with complete or partial laminin α2 chain deficiency. Complete laminin α2 chain deficiency presents with early onset of severe hypotonia and generalized weakness, whereas partial deficiency shows a milder and more variable course with limb girdle weakness. Here, we report a child with mildly...

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Identifiers

PMID: 34074572
DOI: 10.1016/j.nmd.2021.03.009

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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.

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