CCDC78 and centronuclear myopathy: Autosomal-dominant mutations in CCDC78 have also recently been identified in a single family characterized by core-like areas and increased internalized nuclei (Majczenko et al., 2012); CCDC78 encodes a skeletal muscle protein enriched in the perinuclear region and at the sarcolemma and possibly triad (Majczenko et al., 2012), suggesting a possible link with a pathogenic mechanism, abnormal triad assembly, and resulting disturbance of EC coupling, common to other forms of CNM.