Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene
A Theopistou, A Anastasakis, A Miliou… - The American journal of …, 2004 - Elsevier
A Theopistou, A Anastasakis, A Miliou, A Rigopoulos, P Toutouzas, C Stefanadis
The American journal of cardiology, 2004•ElsevierTo 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.
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.
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.
Elsevier