cytochrome-c oxidase deficiency
- cytochrome-c oxidase deficiency
- cy·to·chrome-c ox·i·dase de·fi·cien·cy (siґto-krōm okґsĭ-dās) a hereditary defect in the cytochrome-c oxidase complex that prevents the transfer of electrons from cytochrome c to molecular oxygen, ultimately halting the production of ATP. Manifestations are extremely variable and include myopathies, encephalopathies, ocular and cardiac defects, sensorineural deafness, Fanconi syndrome (def. 1), diabetes mellitus, and short stature. It can be caused by mutation in any of several nuclear or mitochondrial genes, and inheritance can be autosomal recessive, X-linked, or maternal (mitochondrial).
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2011.
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