" /> Cytochrome-C Oxidase Deficiency - CISMeF





Preferred Label : Cytochrome-C Oxidase Deficiency;

NCIt synonyms : Complex IV Deficiency; Mitochondrial Complex IV Deficiency; Cytochrome C Oxidase Deficiency;

NCIt definition : A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.;

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31/07/2025


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