Article
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.
Circulation - 5 Sept 2006
di Barletta Marina Raffaele, Viatchenko-Karpinski Serge, Nori Alessandra, Memmi Mirella, Terentyev Dmitry, Turcato Federica, Valle Giorgia, Rizzi Nicoletta, Napolitano Carlo, Gyorke Sandor, Volpe Pompeo, Priori Silvia G
Abstract excerpt
BACKGROUND: Four distinct mutations in the human cardiac calsequestrin gene (CASQ2) have been linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). The mechanisms leading to the clinical phenotype are still poorly understood because only 1 CASQ2 mutation has been characterized in vitro. METHODS AND RESULTS: We identified a homozygous 16-bp deletion at position 339 to 354 leading to a frame shift...
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