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Article

A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.

Journal of human genetics - 1 Jan 2011

Małek Lukasz A, Labib Sarah, Mazurkiewicz Lukasz, Saj Michał, Płoski Rafał, Tesson Frédérique, Bilińska Zofia T

Abstract excerpt

Mutations in the lamin A/C gene (LMNA) are established causes of familial dilated cardiomyopathy (DCM) with atrio-ventricular block although relatively little is known about genotype-phenotype correlations. We describe a 23-year-old patient who presented with inferolateral wall thinning and akine...

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Source

Identifiers

PMID: 21085127
DOI: 10.1038/jhg.2010.137

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21085127-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.PMID 21085127Read ↗

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