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Mutations in MDH2, Encoding a Krebs Cycle Enzyme,Cause Early-Onset Severe Encephalopathy
Authors:Samira Ait-El-Mkadem  Manal Dayem-Quere  Mirjana Gusic  Annabelle Chaussenot  Sylvie Bannwarth  Bérengère François  Emmanuelle C Genin  Konstantina Fragaki  Catharina LM Volker-Touw  Christelle Vasnier  Valérie Serre  Koen LI van Gassen  Françoise Lespinasse  Susan Richter  Graeme Eisenhofer  Cécile Rouzier  Fanny Mochel  Anne De Saint-Martin  Véronique Paquis-Flucklinger
Institution:1. Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France;2. Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France;3. Institute of Human Genetics, Technical University of Munich, 81675 München, Germany;4. Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany;5. Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands;6. Institute for Integrative Biology of the Cell (I2BC), Commissariat à l’Énergie Atomique et aux Énergies Alternatives, CNRS, Université Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France;7. CNRS UMR 7592, Jacques Monod Institute, Paris Diderot University, 75205 Paris, France;8. Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany;9. INSERM U1127, CNRS UMR 7225, Sorbonne Universités, l’Université Pierre et Marie Curie (Paris 06) UMR S1127, Institut du Cerveau et de la Moelle Épinière Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France;10. Service de Neurologie Pédiatrique, Centre de Référence pour les Épilepsies Rares, Centre Hospitalier Universitaire de Strasbourg, 67098 Strasbourg, France;11. Laboratory of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands;12. Department of Genetics, Hôpital Necker-Enfants Malades, 75015 Paris, France;13. Department of Informatics, Technical University of Munich, 85748 Garching, Germany;14. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;15. Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, NE2 4HH Newcastle upon Tyne, UK;16. Department of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands;17. INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France
Abstract:
Keywords:Corresponding author
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