title: Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy.
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, University Center for Pediatrics Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. matthias.eckenweiler@uniklinik-freiburg.de.
authors.forename: M
authors.initials: M
authors.lastname: Eckenweiler
authors.affiliation: Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München, Munich, Germany. claudia.catarino@med.uni-muenchen.de.
authors.forename: C B
authors.initials: CB
authors.lastname: Catarino
authors.affiliation: Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München, Munich, Germany. constanze.gallenmueller@gmx.net.
authors.forename: C
authors.initials: C
authors.lastname: Gallenmueller
authors.affiliation: Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München, Munich, Germany. tklopsto@med.lmu.de.
authors.forename: T
authors.initials: T
authors.lastname: Klopstock
authors.affiliation: Eye Center at the Medical Center, University of Freiburg, Freiburg, Germany. wolf.lagreze@uniklinik-freiburg.de.
authors.forename: W A
authors.initials: WA
authors.lastname: Lagrèze
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, University Center for Pediatrics Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. rudolf.korinthenberg@uniklinik-freiburg.de.
authors.forename: R
authors.initials: R
authors.lastname: Korinthenberg
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, University Center for Pediatrics Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. janbernd.kirschner@uniklinik-freiburg.de.
authors.forename: J
authors.initials: J
authors.lastname: Kirschner
mesh_terms: D000293:Adolescent; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D004272:DNA, Mitochondrial; D014451:Ubiquinone; C507225:MT-ND6 protein, human; D009245:NADH Dehydrogenase; C036619:idebenone