The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. [electronic resource]
Producer: 20050110Description: 631-41 p. digitalISSN:- 0364-5134
- Adult
- Aged
- DNA Mutational Analysis
- DNA, Mitochondrial -- drug effects
- Family Health
- Female
- Ferricyanides -- metabolism
- Glutamic Acid -- genetics
- Haplotypes
- Humans
- Inhibitory Concentration 50
- Lysine -- genetics
- Magnetic Resonance Spectroscopy -- methods
- Male
- Microscopy, Electron, Transmission -- methods
- Middle Aged
- Mitochondria, Muscle -- pathology
- Models, Molecular
- Muscle, Skeletal -- diagnostic imaging
- Mutation
- NAD -- metabolism
- NADH Dehydrogenase -- genetics
- Occipital Lobe -- diagnostic imaging
- Optic Atrophy, Hereditary, Leber -- genetics
- Pedigree
- Polymorphism, Restriction Fragment Length
- Radionuclide Imaging
- Rotenone -- pharmacology
- Sequence Analysis, Protein -- methods
- Succinate Dehydrogenase -- metabolism
- Visual Acuity -- physiology
- Visual Fields -- physiology
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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