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
Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report.
Yang T et al.
Bmc Musculoskeletal Disorders, 2024
Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.
Wang S et al.
Frontiers in Genetics, 2024
HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.
Fu X et al.
Neuromuscular Disorders : Nmd, 2023
Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.
Pan Y et al.
Journal of Thoracic Disease, 2022
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
Han J et al.
Turkish Journal of Medical Sciences, 2022
Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report.
Zhang J et al.
International Journal of Clinical and Experimental Pathology, 2020
Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy.
Shi J et al.
Frontiers in Integrative Neuroscience, 2020
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2019
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
Missaglia S et al.
Cells, 2019
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.
Latimer CS et al.
Neuromuscular Disorders : Nmd, 2018
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
Tan J et al.
Clinical Neurology and Neurosurgery, 2018
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.
Laforêt P et al.
Molecular Genetics and Metabolism, 2013
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
Lin P et al.
Journal of Human Genetics, 2012