Screening mutation in RYR2 gene in a Kazakhstani idiopathic ventricular tachycardia study cohort: two novel mutations

Abstract

The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (<60%) in context of catecholaminergic polymorphic ventricular tachycardia (CPVT1) [1].