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

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 o...

Source: BMC Pediatrics - May 14, 2020 Category: Pediatrics Authors: Ruochen Che, Chunli Wang, Bixia Zheng, Xuejuan Zhang, Guixia Ding, Fei Zhao, Zhanjun Jia, Aihua Zhang, Songming Huang and Quancheng Feng Tags: Case report Source Type: research