Mutations in the genes encoding RYR1 (RYR1) and SERCA1 (ATP2A1) are known to cause abnormal Ca2+ regulation: RYR1 mutations cause malignant hyperthermia (MH) (MIM: 145600); ATP2A1 mutations cause Brody myopathy (MIM: 601003) (Odermatt et al. The gene discussed is ATP2A1; the disease is Brody myopathy.