Article info

Original research
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

Authors

  • Zhimei Liu Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China PubMed articlesGoogle scholar articles
  • Li Zhang Center for Bioinformatics and Computational Biology, Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, ChinaKey Laboratory of Advanced Theory and Application in Statistics and Data Science - MOE, School of Statistics, East China Normal University, Shanghai, China PubMed articlesGoogle scholar articles
  • Changhong Ren Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China PubMed articlesGoogle scholar articles
  • Manting Xu Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China PubMed articlesGoogle scholar articles
  • Shufang Li Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China PubMed articlesGoogle scholar articles
  • Rui Ban Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China PubMed articlesGoogle scholar articles
  • Ye Wu Department of Pediatrics, Peking University First Hospital, Beijing, China PubMed articlesGoogle scholar articles
  • Ling Chen Department of Neurology, Children’s Hospital of Hebei Province, Hebei Medical University, Shijiazhuang, China PubMed articlesGoogle scholar articles
  • Suzhen Sun Department of Neurology, Children’s Hospital of Hebei Province, Hebei Medical University, Shijiazhuang, China PubMed articlesGoogle scholar articles
  • Matthias Elstner Department of Neurology, Technical University Munich, Munich, Germany PubMed articlesGoogle scholar articles
  • Masaru Shimura Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articlesGoogle scholar articles
  • Minako Ogawa-Tominaga Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articlesGoogle scholar articles
  • Kei Murayama Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articlesGoogle scholar articles
  • Tieliu Shi Center for Bioinformatics and Computational Biology, Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, ChinaKey Laboratory of Advanced Theory and Application in Statistics and Data Science - MOE, School of Statistics, East China Normal University, Shanghai, China PubMed articlesGoogle scholar articles
  • Holger Prokisch Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, ChinaInstitute of Human Genetics, Technical University Munich, Munich, GermanyInstitute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany PubMed articlesGoogle scholar articles
  • Fang Fang Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Fang Fang, Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China; 13910150389{at}163.com; Professor Tieliu Shi; tieliushi{at}yahoo.com; Professor Holger Prokisch; Prokisch{at}helmholtz-muenchen.de
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Citation

Liu Z, Zhang L, Ren C, et al
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

Publication history

  • Received August 9, 2020
  • Revised December 21, 2020
  • Accepted January 10, 2021
  • First published April 2, 2021.
  • Supplementary Data

    This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

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