A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.
Jaksch
M
M
Metabolic Disease Center Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany. Michaela.Jaksch@lrz.uni-muenchen.de
Lochmuller
H
H
Schmitt
F
F
Volpel
B
B
Obermaier-Kusser
B
B
Horvath
R
R
D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D003866:Depressive Disorder / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D042967:Electron Transport Complex I; D006801:Humans; D017243:MERRF Syndrome / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D017354:Point Mutation / Q000235:genetics*; D012356:RNA, Transfer, Leu / Q000235:genetics*
D012356:RNA, Transfer, Leu; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I