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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...

Topics

Actins
Biopsy
Cardiomyopathy, Hypertrophic, Familial
Family Leave
Female
Heterozygote
Homozygote
Humans
Male
Muscle Contraction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Myosin Heavy Chains

Pedigree

Penetrance

Phenotype

Source

Identifiers

PMID: 15528230
DOI: 10.1152/ajpheart.00650.2004

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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