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 T, which was mapped in this study to chromosome 1q. Missense mutations (Ile79Asn; Arg92Gln) and a mutation in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.