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Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
Koch, Johannes; Feichtinger, René G; Freisinger, Peter; Pies, Mechthild; Schrödl, Falk; Iuso, Arcangela; Sperl, Wolfgang; Mayr, Johannes A; Prokisch, Holger; Haack, Tobias B.
Afiliação
  • Koch J; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Feichtinger RG; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Freisinger P; Department of Pediatrics, Kreisklinken Reutlingen, Reutlingen, Germany.
  • Pies M; Social Paediatric Center, Klinikum Frankfurt-Höchst, Frankfurt am Main, Germany.
  • Schrödl F; Department of Ophthalmology and Optometry, Department of Anatomy, Department of Laboratory Medicine (HW), and First Department of Internal Medicine, Paracelsus Medical University, Salzburg, Austria.
  • Iuso A; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Sperl W; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
J Med Genet ; 53(4): 270-8, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26783368
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Atrofia Óptica / Doenças do Sistema Nervoso Periférico / Proteínas Mitocondriais / Proteínas de Membrana Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Áustria
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Atrofia Óptica / Doenças do Sistema Nervoso Periférico / Proteínas Mitocondriais / Proteínas de Membrana Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Áustria