RYR1 and Central core disease: Central core myopathy is classically associated with mutations, dominant or recessive [69, 70], in RYR1 located on chromosome 19q13.1, which encodes the muscle ryanodine receptor (RYR1), a large protein with a molecular mass of 563.5 kDa that assembles as an oligotetramer and is located in the sarcoplasmic reticulum, in contact with the dihydropyridine receptor (DHPR) and other sarcoplasmic reticulum proteins.