Article
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
Cell - 3 Jun 1994
Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H P, Seidman J G, Seidman C E
Abstract excerpt
We demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2. These findings implicated components of the troponin complex as candidate genes at other FHC loci, particularly cardiac troponin...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Chromosome Mapping
- DNA Primers
- DNA, Complementary
- Genetic Linkage
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA Splicing
- Rats
- Sarcomeres
- Tropomyosin
- Troponin
- Troponin T