A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome. [electronic resource]
Producer: 20120710Description: 168-75 p. digitalISSN:- 0006-3002
- Amino Acid Sequence
- Animals
- Cardiomyopathy, Hypertrophic -- genetics
- Catalysis
- Electron Transport Complex I -- genetics
- Female
- Fibroblasts -- metabolism
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Leigh Disease -- enzymology
- Membrane Potential, Mitochondrial -- genetics
- Mitochondria -- enzymology
- Mitochondrial Membranes -- enzymology
- Models, Molecular
- Molecular Sequence Data
- Mutation
- NADH Dehydrogenase -- genetics
- Protein Conformation
- Transduction, Genetic -- methods
- Ubiquinone -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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