Neutral lipid storage disease with myopathy: A 10-year follow-up case report
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Translational Myology"
DOI: 10.4081/ejtm.2022.10645
Abstract: Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known… read more here.
Keywords: lipid storage; storage disease; disease myopathy; neutral lipid ... See more keywords
Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical neuropathology"
DOI: 10.5414/np301159
Abstract: Neutral lipid storage disease with myopathy (NLSDM) is a triglyceride metabolic disorder caused by defects of adipose triglyceride lipases (ATGL). The coexistence of lipid vacuoles and rimmed vacuoles in the myofibers is a characteristic pathological… read more here.
Keywords: pathology; storage disease; neutral lipid; disease myopathy ... See more keywords