1.
J Inherit Metab Dis
; 29(1): 212-3, 2006 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16601896
RESUMO
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.