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The ryanodine receptor / Ca2+ release channel (RyR2) is one of the main actors of the excitation-contraction coupling in the heart. Single-point mutations on RyR2 have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular dysplasia (ARVD) and sudden cardiac death.In this study, we characterized a novel heterozygous RyR2 mutation found...
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