Loss-of-function mutations in the CACNA1S and RYR genes lead to malignant hyperthermia and specific forms of congenital myopathy, such as central core disease42,43, which are characterized by muscle weakness, centrally located cores, and lack of mitochondria and oxidative enzymes with a disorganized contractile apparatus44. This evidence concerns the gene RYR1 and congenital myopathy with cores.