Missense INPP5K mutations are causative for congenital muscular dystrophy overlapping with Marinesco-Sjögren syndrome (MSS), in which affected individuals exhibit a constellation of clinical manifestations, including muscular dystrophy, cataracts, and variable penetrance of brain abnormalities (37–39). The gene discussed is INPP5K; the disease is congenital muscular dystrophy due to LMNA mutation.