A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?
Simon
D K
DK
Tarnopolsky
M A
MA
Greenamyre
J T
JT
Johns
D R
DR
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
D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D009245:NADH Dehydrogenase