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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Gardeitchik, Thatjana; Mohamed, Miski; Ruzzenente, Benedetta; Karall, Daniela; Guerrero-Castillo, Sergio; Dalloyaux, Daisy; van den Brand, Mariël; van Kraaij, Sanne; van Asbeck, Ellyze; Assouline, Zahra; Rio, Marlene; de Lonlay, Pascale; Scholl-Buergi, Sabine; Wolthuis, David F G J; Hoischen, Alexander; Rodenburg, Richard J; Sperl, Wolfgang; Urban, Zsolt; Brandt, Ulrich; Mayr, Johannes A; Wong, Sunnie; de Brouwer, Arjan P M; Nijtmans, Leo; Munnich, Arnold; Rötig, Agnès; Wevers, Ron A; Metodiev, Metodi D; Morava, Eva.
Afiliación
  • Gardeitchik T; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Mohamed M; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Ruzzenente B; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Karall D; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Guerrero-Castillo S; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Unive
  • Dalloyaux D; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • van den Brand M; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands.
  • van Kraaij S; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • van Asbeck E; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Assouline Z; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
  • Rio M; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
  • de Lonlay P; Reference Center for Inherited Metabolic Diseases, Hôpital Necker-Enfants-Malades, Assistance Publique - Hôpitaux de Paris, Université Paris Descartes, Institut Imagine, 75015 Paris, France.
  • Scholl-Buergi S; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Wolthuis DFGJ; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Sperl W; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Urban Z; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA.
  • Brandt U; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Unive
  • Mayr JA; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Wong S; Hayward Genetics Center, Tulane University, LA 70112, USA.
  • de Brouwer APM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Nijtmans L; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Munnich A; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
  • Rötig A; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Metodiev MD; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address: metodi.metodiev@inserm.fr.
  • Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: emoravakozicz@tulane.edu.
Am J Hum Genet ; 102(4): 685-695, 2018 04 05.
Article en En | MEDLINE | ID: mdl-29576219
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Enfermedades Mitocondriales / Proteínas Mitocondriales / Alelos / Pérdida Auditiva Sensorineural / Hipoglucemia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Enfermedades Mitocondriales / Proteínas Mitocondriales / Alelos / Pérdida Auditiva Sensorineural / Hipoglucemia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos