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Article

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

European journal of human genetics : EJHG - 1 Nov 2002

Kabaeva Zhyldyz T, Perrot Andreas, Wolter Bastian, Dietz Rainer, Cardim Nuno, Correia João Martins, Schulte Hagen D, Aldashev Almaz A, Mirrakhimov Mirsaid M, Osterziel Karl Josef

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) can be caused by mutations in genes encoding for the ventricular myosin essential and regulatory light chains. In contrast to other HCM disease genes, only a few studies describing disease-associated mutations in the myosin light chain genes have been published. Therefore, we aimed to conduct a systematic screening for mutations in the ventricular myosin light chain genes in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12404107
DOI: 10.1038/sj.ejhg.5200872

Genes

MYL2
MYL3

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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