Articles with "ophthalmoplegia visual" as a keyword



Photo by rocinante_11 from unsplash

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

Sign Up to like & get
recommendations!
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