Although dominantly inherited central core disease (CCD, MIM# 11700) and recessively inherited multi-minicore disease (MmD) are the most commonly associated myopathies caused by mutations in RYR1, mutations have also been identified in cases of centronuclear myopathy (CNM), congenital fiber-type disproportion (CFTD), and King Denborough syndrome [41, 47, 85] These mutations result in constant calcium leak at rest, defective excitation-contraction coupling, and increased mitochondrial oxidative stress [48, 83]. Here, RYR1 is linked to centronuclear myopathy.