Summary
Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency.
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Communicating editor: Garry Brown
Competing interests: None declared
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Coenen, M.J.H., Smeitink, J.A.M., Farhoud, M.H. et al. The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report. J Inherit Metab Dis 29, 212–213 (2006). https://doi.org/10.1007/s10545-006-0185-3
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DOI: https://doi.org/10.1007/s10545-006-0185-3