title: A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.
authors.affiliation: 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
authors.forename: M
authors.initials: M
authors.lastname: Jaksch
authors.forename: H
authors.initials: H
authors.lastname: Lochmuller
authors.forename: F
authors.initials: F
authors.lastname: Schmitt
authors.forename: B
authors.initials: B
authors.lastname: Volpel
authors.forename: B
authors.initials: B
authors.lastname: Obermaier-Kusser
authors.forename: R
authors.initials: R
authors.lastname: Horvath
mesh_terms: 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*
chemical_list: D012356:RNA, Transfer, Leu; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I