Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Johannes Koch; René G Feichtinger; Peter Freisinger; Mechthild Pies; Falk Schrödl; Arcangela Iuso; Wolfgang Sperl; Johannes A Mayr; Holger Prokisch; Tobias B Haack

doi:10.1136/jmedgenet-2015-103500

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Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

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Johannes Koch Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria PubMed articles Google scholar articles
René G Feichtinger Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria PubMed articles Google scholar articles
Peter Freisinger Department of Pediatrics, Kreisklinken Reutlingen, Reutlingen, Germany PubMed articles Google scholar articles
Mechthild Pies Social Paediatric Center, Klinikum Frankfurt-Höchst, Frankfurt am Main, Germany PubMed articles Google scholar articles
Falk Schrödl Department of Ophthalmology and Optometry, Department of Anatomy, Department of Laboratory Medicine (HW), and First Department of Internal Medicine, Paracelsus Medical University, Salzburg, Austria PubMed articles Google scholar articles
Arcangela Iuso Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany PubMed articles Google scholar articles
Wolfgang Sperl Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria PubMed articles Google scholar articles
Johannes A Mayr Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria PubMed articles Google scholar articles
Holger Prokisch Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany PubMed articles Google scholar articles
Tobias B Haack Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany PubMed articles Google scholar articles

Correspondence to Dr Johannes Koch, Department of Pediatrics, Paracelsus Medical University Salzburg, Muellner Hauptstr. 48, Salzburg 5020, Austria; j.koch{at}salk.at

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Citation

Koch J, Feichtinger RG, Freisinger P, et al

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Journal of Medical Genetics 2016;53:270-278.

Publication history

Received September 16, 2015
Revised November 25, 2015
Accepted December 12, 2015
First published January 18, 2016.

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April 27, 2016

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