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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy
Authors:Dorota Piekutowska-Abramczuk  Zahra Assouline  Lavinija Mataković  René G Feichtinger  Eliška Koňařiková  Elżbieta Jurkiewicz  Piotr Stawiński  Mirjana Gusic  Andreas Koller  Agnieszka Pollak  Piotr Gasperowicz  Joanna Trubicka  Elżbieta Ciara  Katarzyna Iwanicka-Pronicka  Dariusz Rokicki  Sylvain Hanein  Saskia B Wortmann  Wolfgang Sperl  Johannes A Mayr
Institution:1. Department of Medical Genetics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland;2. Department of Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France;3. Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria;4. Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany;5. Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany;6. Department of Diagnostic Imaging, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland;7. Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland;8. Department of Genetics, Institute of Physiology and Pathology of Hearing, 05-830 Warsaw/Kajetany, Poland;9. Department of Audiology and Phoniatrics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland;10. Department of Paediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland;11. INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France
Abstract:
Keywords:complex I  NADH dehydrogenase  respiratory chain  oxidative phosphorylation  mitochondria  Leigh syndrome  lactic acidosis
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