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...
| Hauptverfasser: | , , |
|---|---|
| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
PAGEPress Publications
2022-06-01
|
| Schriftenreihe: | European Journal of Translational Myology |
| Schlagworte: | |
| Online Zugang: | https://www.pagepressjournals.org/index.php/bam/article/view/10645 |