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Dysarthria, Ataxia, and Dystonia Associated with COX20 (FAM36A) Gene Mutation: A Case Report of a Turkish Child

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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… Click to show full 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 complex IV. Complex IV is the final component of the respiratory chain and is responsible for the reduction of molecular oxygen and oxidation of cytochrome C.[1] Several disorders have been reported encephalopathies, myopathies, and liver disease to Leigh’s syndrome, and metabolic acidosis that associated with mutations of both nuclear and mitochondrial complex IV in the literature.[2-4]

Keywords: neurology; cox20; associated cox20; dysarthria ataxia; dystonia associated; ataxia dystonia

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2020

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