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Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation

Authors

  • Norman Kock MD,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
    2. Department of Human Genetics, University of Schleswig-Holstein, Lübeck, Germany
    3. Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
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  • Meike Kasten MD,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
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  • Birgitt Schüle MD,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
    2. Department of Human Genetics, University of Schleswig-Holstein, Lübeck, Germany
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  • Katja Hedrich MA,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
    2. Department of Human Genetics, University of Schleswig-Holstein, Lübeck, Germany
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  • Karin Wiegers BSc,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
    2. Department of Human Genetics, University of Schleswig-Holstein, Lübeck, Germany
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  • Kemal Kabakci MD,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
    2. Department of Human Genetics, University of Schleswig-Holstein, Lübeck, Germany
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  • Johann Hagenah MD,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
    2. Department of Human Genetics, University of Schleswig-Holstein, Lübeck, Germany
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  • Peter P. Pramstaller MD,

    1. Department of Neurology, General Hospital Bolzano, Bolzano, Italy
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  • Matthias F. Nitschke MD,

    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
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  • Alexander Münchau MD,

    1. Department of Neurology, University of Hamburg, Hamburg, Germany
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  • Jürgen Sperner MD,

    1. Department of Pediatrics, University of Lübeck, Lübeck, Germany
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  • Christine Klein MD

    Corresponding author
    1. Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany
    2. Department of Human Genetics, University of Schleswig-Holstein, Lübeck, Germany
    • Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany
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  • A videotape accompanies this article.

Abstract

Many cases of myoclonus–dystonia (M-D) are caused by mutations in the ϵ-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous. © 2003 Movement Disorder Society

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