Research Article

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)†

  1. Heather M. McLaughlin1,
  2. Reiko Sakaguchi2,
  3. William Giblin1,
  4. NIH Intramural Sequencing Center3,
  5. Thomas E. Wilson1,4,
  6. Leslie Biesecker5,
  7. James R. Lupski6,7,8,
  8. Kevin Talbot9,
  9. Jeffery M. Vance10,
  10. Stephan Züchner10,
  11. Yi-Chung Lee11,
  12. Marina Kennerson12,13,
  13. Ya-Ming Hou2,
  14. Garth Nicholson12,13,
  15. Anthony Antonellis1,14,*

Article first published online: 9 NOV 2011

DOI: 10.1002/humu.21635

Issue

Human Mutation

Human Mutation

Volume 33, Issue 1, pages 244–253, January 2012

Additional Information

How to Cite

McLaughlin, H. M., Sakaguchi, R., Giblin, W., NIH Intramural Sequencing Center, Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Lee, Y.-C., Kennerson, M., Hou, Y.-M., Nicholson, G. and Antonellis, A. (2012), A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N). Hum. Mutat., 33: 244–253. doi: 10.1002/humu.21635

Author Information

  1. 1

    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI

  2. 2

    Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA

  3. 3

    NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

  4. 4

    Department of Pathology, University of Michigan Medical School, Ann Arbor, MI

  5. 5

    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

  6. 6

    Departments of Molecular and Human Genetics

  7. 7

    Pediatrics, Baylor College of Medicine, Houston, TX

  8. 8

    Texas Children's Hospital, Houston, TX

  9. 9

    Department of Clinical Neurology, University of Oxford, Oxford, United Kingdom

  10. 10

    Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL

  11. 11

    Department of Neurology, The Neurological Institute, Taipei Veterans General Hospital and School of Medicine, National Yang-Ming University, Taiwan, Republic of China

  12. 12

    Northcott Neuroscience Laboratory, ANZAC Research Institute and Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia

  13. 13

    Faculty of Medicine, University of Sydney, Camperdown, New South Wales, Australia

  14. 14

    Department of Neurology, University of Michigan Medical School, Ann Arbor, MI

*University of Michigan Medical School, 3710A Medical Sciences II, 1241 E. Catherine St. SPC 5618, Ann Arbor, MI 48109-5618

  1. †

    Communicated by George P. Patrinos

Publication History

  1. Issue published online: 14 DEC 2011
  2. Article first published online: 9 NOV 2011
  3. Accepted manuscript online: 18 OCT 2011 03:44PM EST
  4. Manuscript Accepted: 30 SEP 2011
  5. Manuscript Received: 14 JUN 2011

Funded by

  • National Institute of Neurological Diseases and Stroke. Grant Number: (R00NS060983 to A.A., U54NS065712 to S.Z., and R01NS052767 to S.Z.)
  • The Muscular Dystrophy Association. Grant Number: (157681 to Y.-M.H.)
  • The Intramural Research Program of the National Human Genome Research Institute (NIH)
  • The Rackham Merit Fellowship (to H.M.M.)
  • The National Institutes of Health Genetics Training Grant. Grant Number: (T32 GM007544-32 to H.M.M.)

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