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

• Main Authors: Ruochen Che (Author), Chunli Wang (Author), Bixia Zheng (Author), Xuejuan Zhang (Author), Guixia Ding (Author), Fei Zhao (Author), Zhanjun Jia (Author), Aihua Zhang (Author), Songming Huang (Author), Quancheng Feng (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...