In particular, mutations in RYR1, the gene-encoding RyR1, are causative of malignant hyperthermia (MH; MIM #145600), central core disease (CCD; MIM #11700), specific forms of multi-minicore disease (MmD; MIM # 255320), and centronuclear myopathy (Jungbluth et al., 2018; Treves et al., 2008; Lawal et al., 2020; MacLennan and Philips, 1992). The gene discussed is RYR1; the disease is Central core disease.