Associated Papers
Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center.
Luan YN et al.
Orphanet Journal of Rare Diseases, 2025
New insight in lipid storage myopathy.
Wen B et al.
Neuromuscular Disorders : Nmd, 2025
Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.
Wang S et al.
Frontiers in Genetics, 2024
39119584 (PubMed )
Supplement: Table1.XLSX › Sheet1
Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy.
Tian Y et al.
Chinese Medical Journal, 2022
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.
Tavian D et al.
Genes & Diseases, 2021
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2019
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC et al.
European Journal of Human Genetics : Ejhg, 2013
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.
Chen J et al.
Clinical Neuropathology, 0
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