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

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Date

2014

Authors

Akilzhanova, A.
Guelly, C.
Abilova, Z. M.
Rakhimova, S.
Nuralinov, O. M.
Abdrakhmanov, A. C.
Bekbosynova, M. S.

Journal Title

Journal ISSN

Volume Title

Publisher

Nazarbayev University

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].

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Keywords

ventricular tachycardia, ventricular arrhythmia, RYR2 gene

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