Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

OBJECTIVE: The cytochrome c oxidase assembly factor 7 (COA7) gene encodes a protein localized to mitochondria that is involved in the assembly of mitochondrial respiratory chain complex IV. Here, we report the clinical, genetic and biochemical analysis of a female patient with suspected mitochondria...

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Detalles Bibliográficos
Autores principales: Ban, Rui, Liu, Zhimei, Shimura, Masaru, Tong, Xiao, Wang, Junling, Yang, Lei, Xu, Manting, Xiao, Jing, Murayama, Kei, Elstner, Matthias, Prokisch, Holger, Fang, Fang
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/PMC8312223/
https://www.ncbi.nlm.nih.gov/pubmed/34322155
http://dx.doi.org/10.3389/fgene.2021.685035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8312223/
https://www.ncbi.nlm.nih.gov/pubmed/34322155
http://dx.doi.org/10.3389/fgene.2021.685035

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