The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report
Coenen, M J H Smeitink, J A M Farhoud, M H Nijtmans, L G J Rodenburg, R Janssen, A van Kaauwen, E P M Trijbels, F J M van den Heuvel, Lambertus # ×
Journal of Inherited Metabolic Disease vol:29 issue:1 pages:212-3
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.