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Article

A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.

Biochemical and biophysical research communications - 1 Jan 2010

Armel Thomas Z, Leinwand Leslie A

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a common, autosomal dominant disorder primarily characterized by left ventricular hypertrophy and is the leading cause of sudden cardiac death in youth. HCM is caused by mutations in several sarcomeric proteins, with mutations in MYH7, encoding beta-MyHC, being the most common. While many mutations in the globular head region of the protein have been reported and studied,...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19913502
DOI: 10.1016/j.bbrc.2009.11.062
PMCID: PMC2821741

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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