Premium
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report
Author(s) -
Coenen M. J. H.,
Smeitink J. A. M.,
Farhoud M. H.,
Nijtmans L. G. J.,
Rodenburg R.,
Janssen A.,
Kaauwen E. P. M.,
Trijbels F. J. M.,
Heuvel L. P.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0185-3
Subject(s) - cytochrome c oxidase , leigh disease , oxidative phosphorylation , mutation , oxidase test , biology , cytochrome c , genetics , gene , mitochondrion , chemistry , biochemistry , enzyme , microbiology and biotechnology
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.