Article
Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 4 Jul 2023
Qian Yunyun, Zuo Dongchuan, Xiong Jing, Yin Yihen, Qi Ruxi, Ma Xiaomin, Yan An, Yang Yawen, Liu Ping, Zhang Jingying, Tang Kai, Peng Wenhui, Xu Yawei, Liu Zheng
Abstract excerpt
AIMS: The ryanodine receptor 2 (RyR2) is essential for cardiac muscle excitation-contraction coupling; dysfunctional RyR2 participates in the development of inherited arrhythmogenic cardiac disease. In this study, a novel RyR2 mutation A690E is identified from a patient with family inheritance of sudden cardiac death, and we aimed to investigate the pathogenic basis of the mutation. METHODS AND RESULTS: We...
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