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

ObjectiveThe 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 mitochondrial...

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Váldodahkkit:	Rui Ban, Zhimei Liu, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner, Holger Prokisch, Fang Fang
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Frontiers Media S.A. 2021-07-01
Ráidu:	Frontiers in Genetics
Fáttát:	COA7/RESA1 biallelic variant COX assembly factor mitochondrial disease nervous system disorder
Liŋkkat:	https://www.frontiersin.org/articles/10.3389/fgene.2021.685035/full
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