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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 revealed an identical homozygous mutation c.757+1GT in our patient. The clinical symptoms of our patient are related to the type of mutation in the PNPLA2 gene and environmental effects. IJCEP Copyright © 2020.We report a 38-year-old man who
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