Article
Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor.
Circulation research - 30 Apr 2010
Uchinoumi Hitoshi, Yano Masafumi, Suetomi Takeshi, Ono Makoto, Xu Xiaojuan, Tateishi Hiroki, Oda Tetsuro, Okuda Shinichi, Doi Masahiro, Kobayashi Shigeki, Yamamoto Takeshi, Ikeda Yasuhiro, Ohkusa Tomoko, Ikemoto Noriaki, Matsuzaki Masunori
Abstract excerpt
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is caused by a single point mutation in a well-defined region of the cardiac type 2 ryanodine receptor (RyR)2. However, the underlying mechanism by which a single mutation in such a large molecule produces drastic effects on...
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