Dominant RYR1 mutations were originally implicated in two distinct but occasionally overlapping human disorders, Central Core Disease (CCD), a congenital myopathy named after the typical core structures with reduced oxidative stains on muscle biopsy, and the Malignant Hyperthermia Susceptibility (MHS) trait, a pharmacogenetic predisposition to potentially life-threatening episodes of muscle breakdown and metabolic decompensation in response to volatile anaesthetics and/or the neuromuscular blocking agent succinylcholine. The gene discussed is RYR1; the disease is congenital myopathy.