A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
Abstract Background 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 i...
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BMC,
2020-05-01T00:00:00Z.
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