E-viri
Recenzirano
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Itoh, Hideki; Sakaguchi, Tomoko; Ashihara, Takashi; Ding, Wei-Guang; Nagaoka, Iori; Oka, Yuko; Nakazawa, Yuko; Yao, Takenori; Jo, Hikari; Ito, Makoto; Nakamura, Kazufumi; Ohe, Tohru; Matsuura, Hiroshi; Horie, Minoru
International journal of cardiology, 09/2009, Letnik: 137, Številka: 1Journal Article
Abstract In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted ‘ IKr ’ channels. This mutation could modify clinical phenotypes for this patient.
