The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
until further notice
SourceJournal of Inherited Metabolic Disease, 29, 1, (2006), pp. 212-213
Article / Letter to editor
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Epidemiology, Biostatistics & HTA
Journal of Inherited Metabolic Disease
SubjectIGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 8: Mitochondrial medicine; NCEBP 1: Molecular epidemiology; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism
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.
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