Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy

Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy

Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by impaired Adipose Triglyceride Lipase (ATGL) activity, leading to neutral lipid accumulation in various tissues. It typically manifests with progressive skeletal myopathy, with an onset of around 35 year...

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Bibliographic Details
Main Authors: Sara Missaglia, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal, Daniela Tavian
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Genetics
Subjects:
case report
early onset myopathy
NLSDM
ATGL
nonsense-mediated RNA decay
no protein production
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1642442/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1642442/full

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