Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.

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第一作者： Sayako,Hirose

第一单位： Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, 6-1 Kishibe-Shinmachi, Suita, Osaka 564-8565, Japan.

作者： Sayako,Hirose ^[1] ; Takashi,Murayama ^[2] ; Naoyuki,Tetsuo ^[3] ; Minako,Hoshiai ^[3] ; Hiroaki,Kise ^[4] ; Masao,Yoshinaga ^[5] ; Hisaaki,Aoki ^[6] ; Megumi,Fukuyama ^[7] ; Yimin,Wuriyanghai ^[8] ; Yuko,Wada ^[9] ; Koichi,Kato ^[2] ; Takeru,Makiyama ^[9] ; Takeshi,Kimura ^[9] ; Takashi,Sakurai ^[9] ; Minoru,Horie ^[2] ; Nagomi,Kurebayashi ^[2] ; Seiko,Ohno ^[3]

作者单位： Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, 6-1 Kishibe-Shinmachi, Suita, Osaka 564-8565, Japan. ^[1] Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan. ^[2] Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. ^[3] Pediatric Heart Center, Department of Pediatrics, Yamanashi Prefectural Central Hospital, Kofu, Japan. ^[4] Department of Pediatrics, University of Yamanashi, Chuo, Japan. ^[5] Pediatric Heart Disease and Adult Congenital Heart Disease Center, Showa University Hospital, Tokyo, Japan. ^[6] Department of Pediatrics, National Hospital Organization Kagoshima Medical Center, Kagoshima, Japan. ^[7] Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Osaka, Japan. ^[8] Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan. ^[9]

关键词 RyR2 Arrhythmias Loss of function Mutation QT prolongation Ryanodine receptor Ventricular fibrillation