Mutations in this gene are associated with malignant hyperthermia susceptibility (AD, OMIM #145600), central core disease (AD, OMIM #117000), minicore myopathy with external ophthalmoplegia (AR; CMYP1B, OMIM #255320), and King-Denborough syndrome (AD, OMIM #619542). The gene discussed is RYR1; the disease is Malignant hyperthermia.