Article
Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
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 - 2 Mar 2022
Hirose Sayako, Murayama Takashi, Tetsuo Naoyuki, Hoshiai Minako, Kise Hiroaki, Yoshinaga Masao, Aoki Hisaaki, Fukuyama Megumi, Wuriyanghai Yimin, Wada Yuko, Kato Koichi, Makiyama Takeru, Kimura Takeshi, Sakurai Takashi, Horie Minoru, Kurebayashi Nagomi, Ohno Seiko
Abstract excerpt
AIMS: Gain-of-function mutations in RYR2, encoding the cardiac ryanodine receptor channel (RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas, genotype-phenotype correlations of loss-of-function mutations remains unknown, due to a small number of analysed mutations. In this study, we aimed to investigate their genotype-phenotype correlations in patients with loss-of-function RYR2...
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