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Article

Nesprin-1 mutations in human and murine cardiomyopathy.

Journal of molecular and cellular cardiology - 1 Apr 2010

Puckelwartz Megan J, Kessler Eric J, Kim Gene, Dewitt Megan M, Zhang Yuan, Earley Judy U, Depreux Frederic F S, Holaska James, Mewborn Stephanie K, Pytel Peter, McNally Elizabeth M

Abstract excerpt

Mutations in LMNA, the gene encoding the nuclear membrane proteins, lamins A and C, produce cardiac and muscle disease. In the heart, these autosomal dominant LMNA mutations lead to cardiomyopathy frequently associated with cardiac conduction system disease. Herein, we describe a patient with the R374H missense variant in nesprin-1alpha, a protein that binds lamin A/C. This individual developed dilated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19944109
DOI: 10.1016/j.yjmcc.2009.11.006
PMCID: PMC2837775

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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