Article
A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.
Circulation - 1 May 1995
Watkins H, Anan R, Coviello D A, Spirito P, Seidman J G, Seidman C E
Abstract excerpt
BACKGROUND: Two missense mutations in the gene for alpha-tropomyosin have been described that segregate with hypertrophic cardiomyopathy in single families. To confirm that these mutations are the cause of the disease, we have investigated the origins of one of these mutations, Asp175Asn, in a th...
Topics
- Adolescent
- Adult
- Cardiomyopathy, Hypertrophic
- Female
- Haplotypes
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Tropomyosin