Module 12: Figure RYR mutations
Ryanodine receptor (RYR) mutations map to three hot spots.
Mutations of ryanodine receptors type 1 and 2 (RYR1 and RYR2) cause various disease such as malignant hyperthermia (MH), central core disease (CCD), catecholinergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). These mutations are located in three hot spots (regions 1–3). Reproduced from Biochem. Biophys. Res. Commun., Vol. 322, Brini, M., Ryanodine receptor defects in muscle genetic diseases, pp. 1245–1255. Copyright (2004), with permission from Elsevier; see Brini 2004.