Mutations in RYR1 have been associated with a variety of dominant and recessive pathologies including malignant hyperthermia susceptibility (MHS, OMIM #145,600) [16, 25], King-Denborough syndrome [6], central core disease (CCD, OMIM #117,000) [29, 38], multi-minicore disease (MmD, OMIM #255,320) [26], centronuclear myopathy [36], congenital fiber-type disproportion (CFTD) [5], core-rod myopathy [28], dusty core disease (DuCD) [15], late-onset axial myopathy [24], Samaritan myopathy [3], and exertional myalgia [9]. This evidence concerns the gene RYR1 and autosomal dominant centronuclear myopathy.