Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy
Sign Up to like & getrecommendations! Published in 2022 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000002004
Abstract: To the Editor: Neutral lipid 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… read more here.
Keywords: lipid storage; pnpla2 mutation; storage disease; neutral lipid ... See more keywords