RYR1 and congenital myopathy with cores: RyR1 mutations in humans are associated with several congenital myopathies including CCD, multi-mini core disease, hypokalemic periodic paralysis, and malignant hyperthermia (MH) (Fujii et al., 1991; Marchant et al., 2004; Jungbluth, 2007; Treves et al., 2008; Wilmshurst et al., 2010).