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The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

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Journal of Inherited Metabolic Disease

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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References

  • Cooperstein SJ, Lazarow A (1951) A microspectrophotometric method for the determination of cytochrome oxidase. J Biol Chem 189: 665–670.

    CAS  PubMed  Google Scholar 

  • Willems JL, Monnens LA, Trijbels JM, et al (1977) Leigh encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 60: 850–857.

    CAS  PubMed  Google Scholar 

  • Yao J, Shoubridge EA (1999) Expression and functional analysis of surf1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet 8: 2541–2549.

    Article  CAS  PubMed  Google Scholar 

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Authors

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Correspondence to L. P. van den Heuvel.

Additional information

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

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