Biallelic
COA7/RESA1
COX assembly factor
biallelic variant
mitochondrial disease
nervous system disorder
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
24
03
2021
accepted:
15
06
2021
entrez:
29
7
2021
pubmed:
30
7
2021
medline:
30
7
2021
Statut:
epublish
Résumé
The cytochrome c oxidase assembly factor 7 ( We performed trio-exome sequencing in the affected patient and both parents. To verify the pathogenicity of the detected variants in A Chinese girl was referred at 9 months of age with a history of developmental delay and regression since 3 months of age. In the following months, she lost previously acquired skills and developed progressive spasticity of the lower extremities. Trio-exome sequencing revealed compound heterzygous variants in Hitherto, characteristic features of
Identifiants
pubmed: 34322155
doi: 10.3389/fgene.2021.685035
pmc: PMC8312223
doi:
Types de publication
Journal Article
Langues
eng
Pagination
685035Informations de copyright
Copyright © 2021 Ban, Liu, Shimura, Tong, Wang, Yang, Xu, Xiao, Murayama, Elstner, Prokisch and Fang.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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