TY - GEN AU - Valentino,Maria Lucia AU - Barboni,Piero AU - Ghelli,Anna AU - Bucchi,Laura AU - Rengo,Chiara AU - Achilli,Alessandro AU - Torroni,Antonio AU - Lugaresi,Alessandra AU - Lodi,Raffaele AU - Barbiroli,Bruno AU - Dotti,Mariateresa AU - Federico,Antonio AU - Baruzzi,Agostino AU - Carelli,Valerio TI - The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy SN - 0364-5134 PY - 2005///0110 KW - Adult KW - Aged KW - DNA Mutational Analysis KW - DNA, Mitochondrial KW - drug effects KW - Family Health KW - Female KW - Ferricyanides KW - metabolism KW - Glutamic Acid KW - genetics KW - Haplotypes KW - Humans KW - Inhibitory Concentration 50 KW - Lysine KW - Magnetic Resonance Spectroscopy KW - methods KW - Male KW - Microscopy, Electron, Transmission KW - Middle Aged KW - Mitochondria, Muscle KW - pathology KW - Models, Molecular KW - Muscle, Skeletal KW - diagnostic imaging KW - Mutation KW - NAD KW - NADH Dehydrogenase KW - Occipital Lobe KW - Optic Atrophy, Hereditary, Leber KW - Pedigree KW - Polymorphism, Restriction Fragment Length KW - Radionuclide Imaging KW - Rotenone KW - pharmacology KW - Sequence Analysis, Protein KW - Succinate Dehydrogenase KW - Visual Acuity KW - physiology KW - Visual Fields N1 - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1002/ana.20236 ER -