Article
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.
Circulation - 1 Aug 1992
Epstein N D, Cohn G M, Cyran F, Fananapazir L
Abstract excerpt
BACKGROUND: The disease gene for hypertrophic cardiomyopathy (HCM) has been identified as the beta-myosin heavy chain (beta-MHC) gene in some HCM families. We describe extensive clinical evaluations in two kindreds with two distinct point mutations in the beta-MHC gene. METHODS AND RESULTS: We us...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Cardiomyopathy, Hypertrophic
- Chromosomes, Human, Pair 14
- Death, Sudden, Cardiac
- Echocardiography
- Electrocardiography
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myosins
- Pedigree
- Polymerase Chain Reaction