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Biochemical genetics
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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Authors

  • Alessandra Pennisi Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France Inserm UMR_S1163, Institut Imagine, Paris, France PubMed articlesGoogle scholar articles
  • Agnès Rötig Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France Inserm UMR_S1163, Institut Imagine, Paris, France PubMed articlesGoogle scholar articles
  • Charles-Joris Roux Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France PubMed articlesGoogle scholar articles
  • Raphaël Lévy Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France PubMed articlesGoogle scholar articles
  • Marco Henneke Department of Paediatrics and Adolescent Medicine, Germany, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany PubMed articlesGoogle scholar articles
  • Jutta Gärtner Department of Paediatrics and Adolescent Medicine, Germany, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany PubMed articlesGoogle scholar articles
  • Pelin Teke Kisa Pediatric Metabolism and Nutrition, Dokuz Eylül University, Izmir, Turkey PubMed articlesGoogle scholar articles
  • Fatma Ceren Sarioglu Pediatric Radiology, Dokuz Eylül University, Izmir, Turkey PubMed articlesGoogle scholar articles
  • Uluç Yiş Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey PubMed articlesGoogle scholar articles
  • Laura L Konczal Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA Department of Genetics, Case Western Reserve University, Cleveland, OH, USA PubMed articlesGoogle scholar articles
  • Deepika D Burkardt Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA Department of Genetics, Case Western Reserve University, Cleveland, OH, USA National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA PubMed articlesGoogle scholar articles
  • Sulin Wu Department of Genetics, Case Western Reserve University, Cleveland, OH, USA Department of Internal Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA PubMed articlesGoogle scholar articles
  • Pauline Gaignard Bicêtre Hospital, APHP, Department of Biochemistry, Bicêtre, France PubMed articlesGoogle scholar articles
  • Claude Besmond Inserm UMR_S1163, Institut Imagine, Paris, France PubMed articlesGoogle scholar articles
  • Laurence Hubert Inserm UMR_S1163, Institut Imagine, Paris, France PubMed articlesGoogle scholar articles
  • Marlène Rio Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France PubMed articlesGoogle scholar articles
  • Giulia Barcia Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France PubMed articlesGoogle scholar articles
  • Arnold Munnich Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France Inserm UMR_S1163, Institut Imagine, Paris, France PubMed articlesGoogle scholar articles
  • Nathalie Boddaert Inserm UMR_S1163, Institut Imagine, Paris, France Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France PubMed articlesGoogle scholar articles
  • Manuel Schiff Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France Inserm UMR_S1163, Institut Imagine, Paris, France Necker Hospital, APHP, Reference Center for Inborn Errors of Metabolism, Institut Imagine, University of Paris, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Manuel Schiff; manuel.schiff{at}aphp.fr
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Citation

Pennisi A, Rötig A, Roux C, et al
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Journal of Medical Genetics 2022;59:204-208.

Publication history

  • Received July 22, 2020
  • Revised October 1, 2020
  • Accepted October 24, 2020
  • First published November 16, 2020.
Online issue publication 
January 21, 2022

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.