Compound Heterozygous COX20 Variants Impair the Function of Mitochondrial Complex IV to Cause a Syndrome Involving Ophthalmoplegia and Visual Failure
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.873943
Abstract: 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… read more here.
Keywords: ophthalmoplegia visual; civ; visual failure; cox20 variants ... See more keywords
Dysarthria, Ataxia, and Dystonia Associated with COX20 (FAM36A) Gene Mutation: A Case Report of a Turkish Child
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_536_19
Abstract: Annals of Indian Academy of Neurology ¦ Volume 23 ¦ Issue 3 ¦ May-June 2020 399 Sir, Cytochrome c oxidase 20 (COX20) encodes a protein with a role in the assembly and stability of mitochondrial… read more here.
Keywords: neurology; cox20; associated cox20; dysarthria ataxia ... See more keywords