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Article

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jan 2009

Makri Samira, Clarke Nigel F, Richard Pascale, Maugenre Svetlana, Demay Laurence, Bonne Gisèle, Guicheney Pascale

Abstract excerpt

Life-threatening cardiac and respiratory complications are common in LMNA-related myopathies and early diagnosis is important for optimal patient care. Lamin A/C related congenital muscular dystrophy (L-CMD) is often caused by de novo mutation in LMNA, affecting a single child in a family. Germin...

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Source

Identifiers

PMID: 19084400
DOI: 10.1016/j.nmd.2008.09.016

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19084400-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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