Title: The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report
Authors: 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 # ×
Issue Date: Feb-2006
Publisher: MTP Press
Series Title: Journal of Inherited Metabolic Disease vol:29 issue:1 pages:212-3
Abstract: 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.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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