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

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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Bibliographic Details
Main Authors: Ruochen Che, Chunli Wang, Bixia Zheng, Xuejuan Zhang, Guixia Ding, Fei Zhao, Zhanjun Jia, Aihua Zhang, Songming Huang, Quancheng Feng
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Pediatrics
Subjects:
Chinese
Genetic defect
LPIN1
Novel missense variant
Recurrent rhabdomyolysis
Case report
Online Access:http://link.springer.com/article/10.1186/s12887-020-02134-5

Internet

http://link.springer.com/article/10.1186/s12887-020-02134-5

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