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Article

Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy.

American heart journal - 1 Feb 2001

Lee W, Hwang T H, Kimura A, Park S W, Satoh M, Nishi H, Harada H, Toyama J, Park J E

Abstract excerpt

BACKGROUND: Familial hypertrophic cardiomyopathy (HCM) is a clinically and genetically heterogeneous disease of the sarcomere. Molecular genetic studies have shown that familial HCM involves mutations in 8 different genes that encode proteins of the myofibrillar apparatus. METHODS: We thoroughly searched these genes to find the mutations in 38 probands of unrelated families with familial HCM. RESULTS: We found a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11174330
DOI: 10.1067/mhj.2001.112487

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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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