Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene

• Main Authors: Jie Wang (Author), Huan Li (Author), Min Sun (Author), Ying Yang (Author), Qianli Yang (Author), Bailing Liu (Author), Fang Liu (Author), Wen Hu (Author), Yanmin Zhang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mitochondrial diseases constitute a group of heterogeneous hereditary diseases caused by impairments in mitochondrial oxidative phosphorylation and abnormal cellular energy metabolism. C1QBP plays an important role in mitochondrial homeostasis. In this study, clinical, laboratory examinations, 12-le...