Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology

  1. CE Cottrell1,
  2. J Mendell2,3,4,
  3. M Hart-Kothari1,
  4. D Ell1,
  5. DL Thrush1,3,
  6. C Astbury1,2,
  7. M Pastore3,5,6,
  8. JM Gastier-Foster1,2,3,
  9. RE Pyatt1,2,*

Article first published online: 4 MAY 2011

DOI: 10.1111/j.1399-0004.2011.01681.x

Issue

Clinical Genetics

Clinical Genetics

Volume 81, Issue 6, pages 578–583, June 2012

Additional Information

How to Cite

Cottrell, C., Mendell, J., Hart-Kothari, M., Ell, D., Thrush, D., Astbury, C., Pastore, M., Gastier-Foster, J. and Pyatt, R. (2012), Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Clinical Genetics, 81: 578–583. doi: 10.1111/j.1399-0004.2011.01681.x

Author Information

  1. 1

    Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA

  2. 2

    Department of Pathology

  3. 3

    Department of Pediatrics, The Ohio State University, Columbus, OH, USA

  4. 4

    Section of Neurology

  5. 5

    Section of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA

  6. 6

    Division of Molecular and Human Genetics, Department of Pediatrics, The Ohio State University, Columbus, OH, USA

*Dr Robert Pyatt, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, C0986 Columbus, OH 43205, USA. Tel.: +1 614-722-2866; fax: +1 614-722-2887; e-mail: Robert.Pyatt@NationwideChildrens.org

Publication History

  1. Issue published online: 4 MAY 2012
  2. Article first published online: 4 MAY 2011
  3. Accepted manuscript online: 11 APR 2011 05:29AM EST
  4. Received 31 January 2011, revised and accepted for publication 29 March 2011

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