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

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

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]

N. Mungan | F. Incecik | O. Herguner | S. Bozdogan | D. Ozcanyuz

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[3] S. Oeljeklaus,et al. The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis , 2018, Biochimica et biophysica acta. Molecular cell research.

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[5] Christian Gilissen,et al. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. , 2013, Human molecular genetics.

[6] M. Endres,et al. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation , 2013, Journal of Neurology.

[7] Thomas D. Cuypers,et al. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase , 2012, Genome Biology.

[8] W. Neupert,et al. Identification of Cox20p, a Novel Protein Involved in the Maturation and Assembly of Cytochrome Oxidase Subunit 2* , 2000, The Journal of Biological Chemistry.