Article
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.
Circulation - 15 Jun 1995
Nishi H, Kimura A, Harada H, Koga Y, Adachi K, Matsuyama K, Koyanagi T, Yasunaga S, Imaizumi T, Toshima H
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by myocardial hypertrophy of unknown etiology. Missense mutations of the cardiac beta-myosin-heavy-chain (beta-MHC) gene that may be responsible for cardiac hypertrophy have been detected in patients with HCM. On the other hand, gross structural abnormalities in the cardiac beta-MHC gene, ie, an alpha/beta hybrid gene and partial deletion of the gene,...
Topics
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Humans
- Molecular Sequence Data
- Mutation
- Myosins
- Polymerase Chain Reaction
- Polymorphism, Genetic