Neuromuscular Disorders
Volume 18, Issue 7 , Pages 579-582 , July 2008

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy

  • Lawrence Korngut

      Affiliations

    • Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1
    • Corresponding Author InformationCorresponding author. Tel.: +1 403 454 8599; fax: +1 403 283 8731.
    • ,
  • Victoria M. Siu

      Affiliations

    • Division of Pediatric Neurology, Childrens’ Hospital of Western Ontario, London, Canada
    • ,
  • Shannon L. Venance

      Affiliations

    • Department of Clinical Neurological Sciences, University Hospital, London, Canada
    • ,
  • Simon Levin

      Affiliations

    • Division of Pediatric Neurology, Childrens’ Hospital of Western Ontario, London, Canada
    • ,
  • Peter Ray

      Affiliations

    • Molecular Genetics, The Hospital for Sick Children, Toronto, Canada
    • ,
  • Richard J.L.F. Lemmers

      Affiliations

    • Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    • ,
  • Julia Keith

      Affiliations

    • Department of Pathology, University Hospital, London, Canada
    • ,
  • Craig Campbell

      Affiliations

    • Division of Pediatric Neurology, Childrens’ Hospital of Western Ontario, London, Canada

Received 9 August 2007 ,Revised 21 January 2008 ,Accepted 14 March 2008.

References 

  1. Bergmann C, et al. Becker muscular dystrophy combined with x-linked Charcot-Marie-Tooth neuropathy. Muscle Nerve. 2000;23(5):818–823
  2. Darras BT, Korf BR, Urion, DK. (Updated Aug 2005) Dystrophinopathies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2007. Available at: http://www.genetests.org. Accessed Feb 19, 2006.
  3. Lecky BR, et al. X-linked and FSH dystrophies in one family. Neuromuscul Disord. 1991;1(4):275–278
  4. Lemmers RJL, de Kievit P, van Geel M, et al. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol. 2001;50(6):816–819
  5. Orrell RW, et al. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology. 1999;52(9):1822–1826
  6. Tawil R, Griggs RC. Facioscapulohumeral dystrophy. In:  Karpati G editors. Disorders of skeletal muscle. 7th ed.. Cambridge University Press; 2001;p. 464
  7. Klinge L, et al. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromusc Disord. 2006;16:553–558
  8. Tawil R, Van Der Maarel, Silvère M. Facioscapulohumeral dystrophy. Muscle Nerve. 2006;34(1):1–15

☆ Disclosures: None of the authors have competing interests.

☆☆ Note: Presented at the Canadian Congress of Neurological Sciences Annual Meeting, Montreal, Canada, June 2006.

PII: S0960-8966(08)00070-9

doi: 10.1016/j.nmd.2008.03.011

Neuromuscular Disorders
Volume 18, Issue 7 , Pages 579-582 , July 2008

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