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Article

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.

Brain : a journal of neurology - 1 Mar 2000

Rahman S, Lake B D, Taanman J W, Hanna M G, Cooper J M, Schapira A H, Leonard J V

Abstract excerpt

Cytochrome c oxidase (COX) is encoded by three mitochondrial and nine nuclear genes. COX deficiency is genetically heterogeneous but current diagnostic methods cannot easily distinguish between mitochondrial and nuclear defects. We hypothesized that there may be differential expression of COX subunits depending on the underlying mutation. COX subunit expression was investigated in five patients with known mtDNA...

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PMID: 10686181
DOI: 10.1093/brain/123.3.591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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