Author/Authors :
Theopistou، نويسنده , , Artemisia and Anastasakis، نويسنده , , Aristidis and Miliou، نويسنده , , Antigoni and Rigopoulos، نويسنده , , Angelos and Toutouzas، نويسنده , , Pavlos and Stefanadis، نويسنده , , Christodoulos، نويسنده ,
Abstract :
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 that deviates from what is currently expected for cTnT gene mutations.
