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A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

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Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis in western countries. | A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

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