Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutat...

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Detalles Bibliográficos
Autores principales: Yan, Hui-ming, Liu, Zhi-mei, Cao, Bei, Zhang, Victor Wei, He, Yi-duo, Jia, Zheng-jun, Xi, Hui, Liu, Jing, Fang, Fang, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281222/
https://www.ncbi.nlm.nih.gov/pubmed/34276756
http://dx.doi.org/10.3389/fgene.2021.611226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281222/
https://www.ncbi.nlm.nih.gov/pubmed/34276756
http://dx.doi.org/10.3389/fgene.2021.611226

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