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Neuromuscular
Short report
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

Authors

  • Michael Gonzalez Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA PubMed articlesGoogle scholar articles
  • Heather McLaughlin Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA PubMed articlesGoogle scholar articles
  • Henry Houlden Department of Molecular Neurosciences, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Min Guo Department of Cancer Biology, The Scripps Research Institute, Jupiter, Florida, USA PubMed articlesGoogle scholar articles
  • Liu Yo-Tsen Department of Molecular Neurosciences, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Marios Hadjivassilious Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK PubMed articlesGoogle scholar articles
  • Fiorella Speziani Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA PubMed articlesGoogle scholar articles
  • Xiang-Lei Yang Departments of Chemical Physiology and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Anthony Antonellis Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA PubMed articlesGoogle scholar articles
  • Mary M Reilly Department of Molecular Neurosciences, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK PubMed articlesGoogle scholar articles
  • Stephan Züchner Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA PubMed articlesGoogle scholar articles
  • Inherited Neuropathy Consortium (INC)
    Google scholar articles
  1. Correspondence to Dr Stephan Züchner, Dr JT Macdonald Foundation Department for Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine Biomedical Research Building (BRB) Room 523, LC: M-860, 1501 NW 10th Avenue, Miami, FL 33136, USA; szuchner{at}med.miami.edu
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Citation

Gonzalez M, McLaughlin H, Houlden H, et al
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
Journal of Neurology, Neurosurgery & Psychiatry 2013;84:1247-1249.

Publication history

  • Received January 28, 2013
  • Revised April 15, 2013
  • Accepted April 16, 2013
  • First published June 1, 2013.
Online issue publication 
April 04, 2017

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