Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy
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DOI: 10.3389/fnint.2020.554724
Abstract: Objective: To investigate the clinical features, skeletal muscle imaging, muscle pathology, blood smear and so on of neutral lipid storage disease with myopathy (NLSDM) caused by PNPLA2 gene mutation. Methods: The clinical data, skeletal muscle… read more here.
Keywords: muscle; pathology; neutral lipid; pnpla2 gene ... See more keywords