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Neurogenetics
Original research
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Authors

  • Macarena Cabrera-Serrano Department of Neurology, Neuromuscular Unit and Instituto de Biomedicina de Sevilla/CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • David Joseph Coote Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Dimitar Azmanov Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Hayley Goullee Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Erik Andersen Pediatrics, University of Otago Wellington, Wellington, New Zealand Department of Neurology and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Catriona McLean Anatomical Pathology, Alfred Health, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Mark Davis Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Ryosuke Ishimura Department of Physiology, Juntendo University School of Medicine Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Zornitza Stark Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Jean-Michel Vallat Reference center for peripheral neuropathies, University Hospital, Limoges, France PubMed articlesGoogle scholar articles
  • Masaaki Komatsu Department of Physiology, Juntendo University School of Medicine Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Andrew Kornberg Department of Neurology and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Monique Ryan Department of Neurology and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Nigel G Laing Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  • Gina Ravenscroft Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Gina Ravenscroft, Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, WA 6009, Australia; gina.ravenscroft{at}perkins.uwa.edu.au
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Citation

Cabrera-Serrano M, Coote DJ, Azmanov D, et al
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
Journal of Medical Genetics 2020;57:835-842.

Publication history

  • Received August 9, 2019
  • Revised February 19, 2020
  • Accepted February 22, 2020
  • First published March 16, 2020.
Online issue publication 
November 24, 2020

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© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.