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. The gene discussed is RYR1; the disease is central core myopathy.