Hedgehog acyltransferase like (HHATL) is needed for normal postnatal skeletal muscle maturation [33] while mutation of KLHL40 is linked to Nemaline Myopathy 8 and Severe Congenital Nemaline Myopathy reflecting the role of KLHL40 in regulating skeletal muscle development [29]. Here, HHATL is linked to severe congenital nemaline myopathy.