Associated Papers
Multiscale Analysis of PNPLA2 and PNPLA3 Membrane Targeting.
Kumar A et al.
Biorxiv : the Preprint Server for Biology, 2026
Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy.
Missaglia S et al.
Frontiers in Genetics, 2025
[Clinical characteristics and genetic analysis of a child with Neutral lipid storage disease with myopathy].
Zhang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
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
HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.
Fu X et al.
Neuromuscular Disorders : Nmd, 2023
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2019
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
Tavian D et al.
Human Molecular Genetics, 2012
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