Article
Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
Journal of child neurology - 1 Jun 2006
Coenen Marieke J H, Smeitink Jan A M, Pots Jeanette M, van Kaauwen Edwin, Trijbels Frans J M, Hol Frans A, van den Heuvel Lambert P
Abstract excerpt
The mitochondrial oxidative phosphorylation system is composed of five multiprotein complexes. The fourth complex of this system, cytochrome c oxidase (complex IV), consists of 13 subunits: 3 encoded by mitochondrial DNA and 10 encoded by the nuclear genome. Patients with an isolated complex IV d...
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