Valentino, Maria Lucia
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. [electronic resource]
- Annals of neurology Nov 2004
- 631-41 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
ISSN: 0364-5134
Standard No.: 10.1002/ana.20236 doi
Subjects--Topical Terms: 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