title: A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?
authors.forename: D K
authors.initials: DK
authors.lastname: Simon
authors.forename: M A
authors.initials: MA
authors.lastname: Tarnopolsky
authors.forename: J T
authors.initials: JT
authors.lastname: Greenamyre
authors.forename: D R
authors.initials: DR
authors.lastname: Johns
mesh_terms: D001483:Base Sequence; D015153:Blotting, Western; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D004421:Dystonia / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D009245:NADH Dehydrogenase / Q000235:genetics / Q000378:metabolism; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D009245:NADH Dehydrogenase