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The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report
- Source :
- Journal of Inherited Metabolic Disease, 29, 1, pp. 212-3, Journal of Inherited Metabolic Disease, 29, 212-3
- Publication Year :
- 2006
- Publisher :
- Wiley, 2006.
-
Abstract
- Contains fulltext : 51010.pdf (Publisher’s version ) (Closed access) 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.
- Subjects :
- Adult
medicine.medical_specialty
Energy and redox metabolism [NCMLS 4]
DNA Mutational Analysis
Cytochrome-c Oxidase Deficiency
Oxidative phosphorylation
Biology
medicine.disease_cause
Genomic disorders and inherited multi-system disorders [IGMD 3]
Molecular epidemiology [NCEBP 1]
Translational research [ONCOL 3]
Internal medicine
Genetics
medicine
Humans
Cytochrome c oxidase
Electrophoresis, Gel, Two-Dimensional
SURF1
Phosphorylation
Leigh disease
Gene
Genetics (clinical)
chemistry.chemical_classification
Mutation
medicine.disease
Mitochondrial medicine [IGMD 8]
Enzyme
Endocrinology
Genetic defects of metabolism [UMCN 5.1]
Liver
chemistry
biology.protein
Female
Leigh Disease
Cellular energy metabolism [UMCN 5.3]
Follow-Up Studies
Subjects
Details
- ISSN :
- 15732665 and 01418955
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi.dedup.....14af931654a283fd9bdff42bdb68d0aa