The results of this study contribute to the explanation of the pathogenesis of RYR1 mutation-associated myopathies and are beneficial to find out the molecular mechanism of the pathological process, to provide reference for the diagnosis and therapeutic targets of RYR1 mutation-associated myopathies and help anesthesiologists to choose a reasonable anesthesia mode and prepare for malignant hyperthermia in patients. Here, RYR1 is linked to myopathy.