Article
Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.
Circulation - 1 Jan 1994
Fananapazir L, Epstein N D
Abstract excerpt
BACKGROUND: We have previously described two distinct mutations in the beta-myosin heavy chain gene with markedly different clinical presentations and outcome: The 908Leu-->Val mutation was associated with a low disease penetrance and a benign prognosis. In contrast, the 403Arg-->Gln mutation in...
Topics
- Adult
- Aged
- Aged, 80 and over
- Blotting, Southern
- Cardiomyopathy, Hypertrophic
- Child
- Death, Sudden, Cardiac
- Female
- Genotype
- Humans
- Male
- Middle Aged
- Mutation