RYR1 encodes the sarcoplasmic reticulum (SR) calcium release channel (or ryanodine receptor—RyR1) and its mutations are associated with susceptibility to malignant hyperthermia (MH [MIM: 145600]) and myopathies, especially congenital central core disease (CCD [MIM 117000]) [5]. This evidence concerns the gene RYR1 and myopathy.