P.88Lipid storage myopathies due to ETFDH and PNPLA2 mutations: MRI and microRNA role as biomarkers

In lipid storage myopathies (LSM) caused by ETFDH and PNPLA2 mutations we evaluated the expression profile of microRNAs. The abnormal storage of triglycerides (TG) in skeletal muscle can be due to ETFDH mutations in the riboflavin responsive multiple acyl-CoA deficiency (RR-MAD) with secondary carnitine deficiency, and PNPLA2 mutations in neutral lipid storage myopathy (NLSDM). Fat oxidation is impaired in LSM. The main morphological feature is the accumulation of lipid droplets in muscle and other tissues.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: C. Angelini, V. Pegoraro, R. Marozzo, S. Missaglia, D. Tavian, D. Tavian Source Type: research