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Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy.
Eckenweiler, M; Catarino, C B; Gallenmueller, C; Klopstock, T; Lagrèze, W A; Korinthenberg, R; Kirschner, J.
Afiliação
  • Eckenweiler M; Department of Neuropediatrics and Muscle Disorders, University Center for Pediatrics Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. matthias.eckenweiler@uniklinik-freiburg.de.
  • Catarino CB; Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München, Munich, Germany. claudia.catarino@med.uni-muenchen.de.
  • Gallenmueller C; Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München, Munich, Germany. constanze.gallenmueller@gmx.net.
  • Klopstock T; Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München, Munich, Germany. tklopsto@med.lmu.de.
  • Lagrèze WA; Eye Center at the Medical Center, University of Freiburg, Freiburg, Germany. wolf.lagreze@uniklinik-freiburg.de.
  • Korinthenberg R; Department of Neuropediatrics and Muscle Disorders, University Center for Pediatrics Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. rudolf.korinthenberg@uniklinik-freiburg.de.
  • Kirschner J; Department of Neuropediatrics and Muscle Disorders, University Center for Pediatrics Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. janbernd.kirschner@uniklinik-freiburg.de.
J Neurol ; 262(12): 2776-9, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26530508
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Atrofia Óptica Hereditária de Leber / NADH Desidrogenase Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Atrofia Óptica Hereditária de Leber / NADH Desidrogenase Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article