Arrhythmogenic Mechanism of a Novel Ryanodine Receptor Mutation Underlying Sudden Cardiac Death.

Yunyun Qian,Dongchuan Zuo, Jing Xiong,Yihen Yin,Ruxi Qi,Xiaomin Ma,An Yan,Yawen Yang,Ping Liu,Jingying Zhang,Kai Tang,Wenhui Peng,Yawei Xu,Zheng Liu

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（2023）

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摘要

In this study, we have identified a novel mutation in RyR2 that is associated with sudden cardiac death. By characterizing the function defects of mutant RyR2 in animal, whole heat, and cardiomyocytes, we demonstrated the pathogenic basis of the disease-causing mutation and provided a deeper mechanistic understanding of a life-threatening cardiac arrhythmia.

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novel ryanodine receptor mutation,arrhythmogenic mechanism

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