Neutral Lipid Storage Disease with Myopathy: Clinicopathological and Genetic Features of Nine Iranian Patients

Neutral lipid storage disease with myopathy (NLSDM, OMIM#610717) is a rare genetic disorder caused by mutations in the Patatin-like phospholipase domain-containing-2 (PNPLA2) gene encoding adipose triglyceride lipase (ATGL) [1]. ATGL enzymes are involved in triglycerides hydrolysis in adipose tissue, and when PNPLA2 mutations impair their activity, lipid accumulates in most organs. While, NLSDM primarily affects skeletal and cardiac muscles, it can also affect other organs, such as the brain, liver, and pancreas [3].

Source: Neuromuscular Disorders - December 21, 2023 Category: Neurology Authors: Hamed Shahriyari, Mahtab Ramezani, Yalda Nilipour, Ali Asghar Okhovat, Ariana Kariminejad, Leila Aghaghazvini, Farzad Fatehi, Shahriar Nafissi Tags: Research paper Source Type: research