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- Title
Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death.
- Authors
Chung, Wendy K; Kitner, Carrie; Maron, Barry J
- Abstract
PurposeHypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in Troponin C, a rare form of hypertrophic cardiomyopathy.
- Publication
Cardiology in the young, 2011, Vol 21, Issue 3, p345
- ISSN
1467-1107
- Publication type
Journal Article
- DOI
10.1017/S1047951110001927