NLSD includes neutral lipid storage disease with myopathy (NLSDM) [1] and neutral lipid storage disorder with ichthyosis caused by mutations in the patatin-like phospholipase domain-containing protein (PNPLA2) and α/β-hydrolase domain-containing protein 5 (ABHD5) genes, respectively [2]. Here, PNPLA2 is linked to neutral lipid storage myopathy.