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Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report.
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NLSDM is a rare metabolic myopathy caused by mutations in the patatin-like phosphatase domain protein 2 (PAPLA2) genes. In the present study, we describe the clinical and genetic findings in our Chinese patient with NLSDM. Sequence analysis of PNPLA2 gene was performed. Gene analysis for PNPLA2
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.
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Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
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Neutral lipid storage disease is caused by mutations in the CGI-58 or the PNPLA2 genes. Lipid storage can be detected in various cell types including blood granulocytes. While CGI-58 mutations are associated with Chanarin-Dorfman syndrome, a condition characterized by lipid storage and skin
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
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