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

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 in wester...

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Bibliografski detalji
Izdano u:BMC Pediatr
Glavni autori: Che, Ruochen, Wang, Chunli, Zheng, Bixia, Zhang, Xuejuan, Ding, Guixia, Zhao, Fei, Jia, Zhanjun, Zhang, Aihua, Huang, Songming, Feng, Quancheng
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7222443/
https://ncbi.nlm.nih.gov/pubmed/32410653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02134-5
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