Open access
Sep 2026
Delving into the clinical and genetic spectrum of NLSDM: A case study
Mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL), are linked to neutral lipid storage disease with myopathy (NLSDM). This rare genetic disorder is marked by abnormal accumulation of neutral lipids in cytoplasmic lipid droplets, leading to muscle-related symptoms such as weakness, cramps an...
Daniela Tavian, Barbara Risi, L. Moro et al.
· Journal of Neuromuscular Dis... · 0 citations