While mammalian studies argue against a comparable role for cMyBP-C in mammals, observations of skeletal myopathy in an infant with a truncating MYBPC3 mutation [26], and the finding of cMyBP-C transcripts in proliferating human skeletal mononucleated myoblasts and myotubes [27] have suggested that this possibility should be kept open. This evidence concerns the gene MYBPC3 and skeletal muscle disorder.