Article
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
The Biochemical journal - 7 Aug 2017
Chen Wenqian, Koop Andrea, Liu Yingjie, Guo Wenting, Wei Jinhong, Wang Ruiwu, MacLennan David H, Dirksen Robert T, Chen Sui Rong Wayne
Abstract excerpt
Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), whereas mutations in the cardiac ryanodine receptor (RyR2) lead to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most disease-associated RyR1 and RyR2 mutations are located in the N-terminal, central, and C-terminal regions of the corresponding ryanodine receptor (RyR)...
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