The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
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.
Coenen
M J H
MJ
Nijmegen Centre for Mitochondrial Disorder, Radboud University Nijmegen Medical Centre, The Netherlands.
Smeitink
J A M
JA
Farhoud
M H
MH
Nijtmans
L G J
LG
Rodenburg
R
R
Janssen
A
A
van Kaauwen
E P M
EP
Trijbels
F J M
FJ
van den Heuvel
L P
LP
D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy*; D004252:DNA Mutational Analysis; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics*; D008099:Liver / Q000201:enzymology; D009154:Mutation; D010766:Phosphorylation