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Article

Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.

American journal of physiology. Heart and circulatory physiology - 1 Mar 2005

Alpert Norman R, Mohiddin Saidi A, Tripodi Dorothy, Jacobson-Hatzell Jacqueline, Vaughn-Whitley Kelly, Brosseau Christine, Warshaw David M, Fananapazir Lameh

Abstract excerpt

Autosomal dominant familial hypertrophic cardiomyopathy (FHC) has variable penetrance and phenotype. Heterozygous mutations in MYH7 encoding beta-myosin heavy chain are the most common causes of FHC, and we proposed that "enhanced" mutant actin-myosin function is the causative molecular abnormality. We have studied individuals from families in which members have two, one, or no mutant MYH7 alleles to examine for...

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Source

Identifiers

PMID: 15528230
DOI: 10.1152/ajpheart.00650.2004

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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