Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.
Vandenberghe
Wim
W
Van Laere
Koen
K
Debruyne
Frederik
F
Van Broeckhoven
Christine
C
Van Goethem
Gert
G
D019943:Amino Acid Substitution; D001763:Blepharoptosis / Q000235:genetics; D002250:Carbon Radioisotopes; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D050259:Genes, Mitochondrial; D006801:Humans; D007457:Iodine Radioisotopes; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins; D020125:Mutation, Missense; D017246:Ophthalmoplegia, Chronic Progressive External / Q000000981:diagnostic imaging / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D049268:Positron-Emission Tomography; D011699:Putamen / Q000000981:diagnostic imaging; D014202:Tremor / Q000235:genetics; D014326:Tropanes
D002250:Carbon Radioisotopes; D007457:Iodine Radioisotopes; D024101:Mitochondrial Proteins; D014326:Tropanes; C087552:2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane; D004265:DNA Helicases; C431576:TWNK protein, human