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Article

Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis.

Journal of the American Heart Association - 16 Mar 2021

Shauer Ayelet, Shor Oded, Wei Jinhong, Elitzur Yair, Kucherenko Nataly, Wang Ruiwu, Chen S R Wayne, Einav Yulia, Luria David

Abstract excerpt

Background The cardiac ryanodine receptor type 2 (RyR2) is a large homotetramer, located in the sarcoplasmic reticulum (SR), which releases Ca2+ from the SR during systole. The molecular mechanism underlying Ca2+ sensing and gating of the RyR2 channel in health and disease is only partially elucidated. Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1) is the most prevalent syndrome caused by RyR2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33686871
DOI: 10.1161/JAHA.120.017128
PMCID: PMC8174198

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Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis.PMID 33686871Read ↗

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