Neuromuscular Disorders
Volume 19, Issue 12 , Pages 828-832 , December 2009

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

  • U. Schara

      Affiliations

    • Dept. of Pediatric Neurology, University of Essen, Germany
    • Corresponding Author InformationCorresponding author. Address: Dept. of Pediatric Neurology, University of Essen, Hufelandstr. 55, D-45122 Essen, Germany. Tel.: +49 201 723 2356; fax: +49 201 723 5389.
    • ,
  • N. Barisic

      Affiliations

    • Dept. of Pediatrics, Clinical Medical Center, University of Zagreb, Croatia
    • ,
  • M. Deschauer

      Affiliations

    • Dept. of Neurology, Martin-Luther-University, Halle-Wittenberg, Germany
    • ,
  • C. Lindberg

      Affiliations

    • Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden
    • ,
  • V. Straub

      Affiliations

    • Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    • ,
  • N. Strigl-Pill

      Affiliations

    • Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University, Munich, Germany
    • ,
  • M. Wendt

      Affiliations

    • Dept. of Neurology, Martin-Luther-University, Halle-Wittenberg, Germany
    • ,
  • A. Abicht

      Affiliations

    • Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University, Munich, Germany
    • ,
  • J.S. Müller

      Affiliations

    • Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    • ,
  • H. Lochmüller

      Affiliations

    • Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK

Received 25 August 2009 ,Accepted 21 September 2009.

References 

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  12. Vogt J, Morgan V, Marton T, Maxwell S, Harrison B, Beeson D, et al. Germline mutation in DOK7 associated with foetal akinesia deformation sequence. J Med Genet. 2009;46:338–340
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PII: S0960-8966(09)00622-1

doi: 10.1016/j.nmd.2009.09.008

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 828-832 , December 2009

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