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Article

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.

Experimental cell research - 15 Nov 2013

Al-Saaidi Rasha, Rasmussen Torsten B, Palmfeldt Johan, Nissen Peter H, Beqqali Abdelaziz, Hansen Jakob, Pinto Yigal M, Boesen Thomas, Mogensen Jens, Bross Peter

Abstract excerpt

Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by cardiac chamber enlargement and reduced systolic function of the left ventricle. Mutations in the LMNA gene represent the most frequent known genetic cause of DCM associated with disease of the conduction systems. The LMNA gene generates two major transcripts encoding the nuclear lamina major components lamin A and lamin C by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myocytes, Cardiac

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Source

Identifiers

PMID: 24001739
DOI: 10.1016/j.yexcr.2013.08.024

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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