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Compound Heterozygous COX20 Variants Impair the Function of Mitochondrial Complex IV to Cause a Syndrome Involving Ophthalmoplegia and Visual Failure

The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and muscle hypotonia. However, ophthalmoplegia and visual failure associated with COX20 mutation have not been examined previo...

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Detalles Bibliográficos
Autores principales:	Li, Peizheng, Guo, Dandan, Zhang, Xiufang, Ji, Kunqian, Lv, Hongbo, Zhang, Yanli, Chen, Zhichao, Ma, Jun, Fang, Yaofeng, Liu, Yiming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149563/ https://www.ncbi.nlm.nih.gov/pubmed/35651336 http://dx.doi.org/10.3389/fneur.2022.873943

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