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Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia

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Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical standard

This study was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

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    Authors and Affiliations

    1. Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany

      Christoph Kuhm, Constanze Gallenmüller & Thomas Klopstock

    2. Munich Cluster of Systems Neurology (SyNergy), Munich, Germany

      Christoph Kuhm & Thomas Klopstock

    3. German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

      Constanze Gallenmüller & Thomas Klopstock

    4. Gynaecology Research Unit, Clinics of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany

      Thilo Dörk

    5. CeGaT GmbH-Center for Genomics and Transcriptomics, Paul-Ehrlich-Str. 17, 72076, Tübingen, Germany

      Moritz Menzel & Saskia Biskup

    Authors
    1. Christoph Kuhm
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    2. Constanze Gallenmüller
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    3. Thilo Dörk
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    Corresponding author

    Correspondence to Thomas Klopstock.

    Additional information

    C. Kuhm, C. Gallenmüller contributed equally to the manuscript.

    Electronic supplementary material

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    Video shows resting tremor of both hands, torticollis, dystonic head tremor, and oromandibular dystonia. Finger-to-nose test, heel-to-shin test, and Romberg test were normal. Stance and gait were unremarkable as well.

    Supplementary material 1 (M4 V 8661 kb)

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    Kuhm, C., Gallenmüller, C., Dörk, T. et al. Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. J Neurol 262, 768–770 (2015). https://doi.org/10.1007/s00415-015-7636-4

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    • DOI: https://doi.org/10.1007/s00415-015-7636-4

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