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

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...

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Detalles Bibliográficos
Autores principales: Wang, Jie, Li, Huan, Sun, Min, Yang, Ying, Yang, Qianli, Liu, Bailing, Liu, Fang, Hu, Wen, Zhang, Yanmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7738465/
https://www.ncbi.nlm.nih.gov/pubmed/33344382
http://dx.doi.org/10.3389/fped.2020.583047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7738465/
https://www.ncbi.nlm.nih.gov/pubmed/33344382
http://dx.doi.org/10.3389/fped.2020.583047

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