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