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

0364-5134

10.1002/ana.20236 doi


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