Article
Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene.
The American journal of cardiology - 15 Jul 2004
Theopistou Artemisia, Anastasakis Aristidis, Miliou Antigoni, Rigopoulos Angelos, Toutouzas Pavlos, Stefanadis Christodoulos
Abstract excerpt
To further examine the genetic and clinical features of hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T (cTnT) gene, we screened 143 probands from our hypertrophic cardiomyopathy population for mutations in this gene. We report that the Arg278Cys missense mutation in the cTnT gene had a different clinical presentation in 2 different families and was associated with a clinical profile...
Topics
- Adolescent
- Adult
- Aged
- Arginine
- Cardiomyopathy, Hypertrophic
- Cysteine
- Electrocardiography
- Female
- Humans
- Male
- Mutation, Missense