CASQ1 and tubular aggregate myopathy: Skeletal CASQ1 pathological missense mutations in heterozygous conditions are linked to either malignant hyperthermia (CASQ1 M87T) or tubular aggregate myopathy (CASQ1 D44N, G103D, D244G, I387T) [15,83,84], whereas the numerous pathological mutations of the cardiac isoform lead to Catecholaminergic Polymorphic Ventricular Tachycardia type 2 (CPVT2) mainly in homozygosis [31,36,85].