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Article

Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death

1 Apr 2021

Abstract excerpt

Mutations in cardiac ryanodine receptor (RyR2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most CPVT RyR2 mutations characterized are gain-of-function (GOF), indicating enhanced RyR2 function as a major cause of CPVT. Loss-of-function (LOF) RyR2 mutations have also been identified and are linked to a distinct entity of cardiac arrhythmia termed RyR2 Ca2+ release deficiency syndrome...

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PMID: 33825858
DOI: 10.1042/bsr20210209

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