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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss,Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Authors:Thatjana Gardeitchik  Miski Mohamed  Benedetta Ruzzenente  Daniela Karall  Sergio Guerrero-Castillo  Daisy Dalloyaux  Mariël van den Brand  Sanne van Kraaij  Ellyze van Asbeck  Zahra Assouline  Marlene Rio  Pascale de Lonlay  Sabine Scholl-Buergi  David F.G.J. Wolthuis  Alexander Hoischen  Richard J. Rodenburg  Wolfgang Sperl  Zsolt Urban  Eva Morava
Affiliation:1. Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands;2. Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands;3. INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France;4. Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria;5. Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands;6. Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands;7. Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France;8. Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA;9. Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria;10. Hayward Genetics Center, Tulane University, LA 70112, USA;11. Donders Institute for Brain, Cognition and Behaviour, Medical Center, 6500 HB Nijmegen, the Netherlands;12. Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA;13. Reference Center for Inherited Metabolic Diseases, Hôpital Necker-Enfants-Malades, Assistance Publique – Hôpitaux de Paris, Université Paris Descartes, Institut Imagine, 75015 Paris, France
Abstract:
Keywords:mitochondrial ribosomes  mitochondrial translation defect  combined OXPHOS complex deficiencies  hearing loss  wrinkly skin  2-oxoglutaric acid  complexome profiling
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