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  • Title: Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene.
    Author: Theopistou A, Anastasakis A, Miliou A, Rigopoulos A, Toutouzas P, Stefanadis C.
    Journal: Am J Cardiol; 2004 Jul 15; 94(2):246-9. PubMed ID: 15246915.
    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.
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