Compared with those on cMyBP-C, studies on skeletal MyBP-C isoforms (slow and fast MyBP-C) are not as robust, despite the revelations of recent reports showing that mutations in skeletal MyBP-C are associated with inherited skeletal muscle diseases, such as distal arthrogryposis (DA) and lethal congenital contracture syndrome (LCCS)24,25. Here, MYBPC3 is linked to lethal congenital contracture syndrome.