Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy

To the Editor:Neutral lipidd storage disease with myopathy(NLSDM)is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene.The gene encodes adipose triglyceride lipase(ATGL),an enzyme that catalyzes hydrolysis of triglycerides in mammalian adipose tissue and plays key roles in the function of lipid droplets(LDs).The results of many biochemical studies have revealed intracellular localization of ATGLwithLDs,but catalyticactivity iscompletely lost in the context of PNPLA2mutation.