ArticleEuropean journal of translational myology2022
Neutral lipid storage disease with myopathy: A 10-year follow-up case report.
Article in European journal of translational myology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Delving into the clinical and genetic spectrum of NLSDM: A case study.Journal of neuromuscular diseases · 2026Article
- Case Report: a novelFrontiers in genetics · 2026Article
- Progressive Weakness in Adulthood: Lipid Storage Myopathy With Suspected Sertraline-Associated Etiology.Cureus · 2025Article
- Padua Days on Muscle and Mobility Medicine, March 25-29, 2025, Hotel Petrarca, Euganean Thermae, Italy: Program and Abstracts.European journal of translational myology · 2025Article
- Case Report: PathogenicFrontiers in genetics · 2025Article
- Dilated cardiomyopathy caused by mutation of theFrontiers in genetics · 2024Article
- Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.BMC neurology · 2023Article
- Medium-chain triglycerides (8:0 and 10:0) increase muscle mass and function in frail older adults: a combined data analysis of clinical trials.Frontiers in nutrition · 2023Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
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Abstract
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 report the follow-up of a 30-year-old woman with NLSDM, asymptomatic until age 23. At the age of 18, a high level of CPK and neutral lipid abnormal accumulation in muscle and skin cells suggested NLSDM diagnosis, afterwards confirmed by PNPLA2 analysis. After 5 years, she developed weakness in the upper and lower extremities. She was put on a low-fat diet with medium-chain triglycerides (MCT) oil supplementation but, although her CPK level decreased, myopathy continued to progress. At present, she presents severe skeletal myopathy without cardiac involvement. In this patient, no beneficial effects on progressive skeletal muscle weakness were detected after the MCT diet, probably due to complete loss of PNPLA2 expression.
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Registered trials
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