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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Detalles Bibliográficos
Autores principales: Che, Ruochen, Wang, Chunli, Zheng, Bixia, Zhang, Xuejuan, Ding, Guixia, Zhao, Fei, Jia, Zhanjun, Zhang, Aihua, Huang, Songming, Feng, Quancheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222443/
https://www.ncbi.nlm.nih.gov/pubmed/32410653
http://dx.doi.org/10.1186/s12887-020-02134-5

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