CCDC78 and centronuclear myopathy: Variants in multiple genes encoding proteins linked to various aspects of phosphoinositide metabolism and membrane trafficking, T-tubule formation, triad assembly, and EC coupling (DNM2, TTN, BIN1, MTMR14, CCDC78) [76] have been associated with CNM, including the most severe fatal X-linked form (myotubular myopathy) attributed to mutations in the MTM1 gene [77].