Article
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.
Circulation - 23 Aug 2011
Taylor Matthew, Graw Sharon, Sinagra Gianfranco, Barnes Carl, Slavov Dobromir, Brun Francesca, Pinamonti Bruno, Salcedo Ernesto E, Sauer William, Pyxaras Stylianos, Anderson Brian, Simon Bernd, Bogomolovas Julius, Labeit Siegfried, Granzier Henk, Mestroni Luisa
Abstract excerpt
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited genetic myocardial disease characterized by fibrofatty replacement of the myocardium and a predisposition to cardiac arrhythmias and sudden death. We evaluated the cardiomyopathy gene titin (TTN) as a candidate ARVC gene because of its proximity to an ARVC locus at position 2q32 and the connection of the titin protein to the...
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