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Article

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

Human mutation - 1 May 2003

Charniot Jean-Christophe, Pascal Cécile, Bouchier Christiane, Sébillon Pascale, Salama Jeffrey, Duboscq-Bidot Laëtitia, Peuchmaurd Mireille, Desnos Michel, Artigou Jean-Yves, Komajda Michel

Abstract excerpt

Heritable dilated cardiomyopathy is a genetically highly heterogeneous disease. To date 17 different chromosomal loci have been described for autosomal dominant forms of dilated cardiomyopathy with or without additional clinical manifestations. Among the 10 mutated genes associated with dilated cardiomyopathy, the lamin A/C (LMNA) gene has been reported in forms associated with conduction-system disease with or...

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Source

Identifiers

PMID: 12673789
DOI: 10.1002/humu.10170

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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