Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.

doi:10.1006/jmcc.2000.1193

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Article

Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.

Journal of molecular and cellular cardiology - 1 Aug 2000

Richard P, Charron P, Leclercq C, Ledeuil C, Carrier L, Dubourg O, Desnos M, Bouhour J B, Schwartz K, Daubert J C, Komajda M, Hainque B

Abstract excerpt

UNLABELLED: Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disease characterised by ventricular hypertrophy, with predominant involvement of the interventricular septum. It is a monogenic disease with a high level of genetic heterogeneity (nine genes and more than 110 mutations reported so far). We describe a family with a new R869G mutation in the beta -myosin heavy chain gene (MYH7). This...

Topics

Adult
Age of Onset
Aged
Cardiomyopathy, Hypertrophic
Family Health
Female
Genes, Dominant
Genetic Markers
Genotype
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Myosin Heavy Chains

Pedigree

Phenotype

Polymorphism, Single-Stranded Conformational

Source

Open in PubMed

Identifiers

PMID: 10900182
DOI: 10.1006/jmcc.2000.1193

Genes

MYH7

Provenance

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

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