Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene

The American Journal of Cardiology
Artemisia TheopistouChristodoulos Stefanadis

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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Citations

Nov 27, 2008·The Journal of Clinical Investigation·Franz BaudenbacherBjörn C Knollmann
Oct 29, 2015·Revista Española De Cardiología·Tomás Ripoll-VeraJorge Rosell
Aug 4, 2012·Revista Portuguesa De Cardiologia : Orgão Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology·Dulce BritoHugo Madeira
Aug 19, 2011·European Journal of Medical Genetics·Gilles MillatRobert Rousson
Feb 26, 2016·Journal of Cardiovascular Translational Research·Sinead L MurphyJ Martijn Bos
Apr 23, 2011·Circulation. Cardiovascular Genetics·Christiane GrunerHarry Rakowski

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