Neutral lipid storage disease with myopathy: A 10-year follow-up case report

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 as neutral lipid storage disease with myopathy (NLSDM). We rep...

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Bibliographic Details
Main Authors: Sara Missaglia, Daniela Tavian, Corrado Angelini
Format: Article
Language:English
Published: PAGEPress Publications 2022-06-01
Series:European Journal of Translational Myology
Subjects:
Online Access:https://www.pagepressjournals.org/index.php/bam/article/view/10645