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Ozcanyuz, Duygu; Incecik, Faruk; Herguner, Ozlem; Mungan, Neslihan; Bozdogan, Sevcan
Annals of the Indian Academy of Neurology, 05/2020, Volume: 23, Issue: 3Journal Article
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. The results of complete blood counting, uric acid, folic acid, vitamin B12, alpha-fetoprotein, and ceruplasmin were in the normal range. ...of the clinical exome analysis, a homozygous mutation at the COX20 gene (c. 190A > C; pT64P) was identified, which is related to his clinical findings.
