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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

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Acknowledgments

The authors thank the patients and their family for participating in the study. We gratefully acknowledge the expert technical support of Angelika Zwirner and Corinna Preuße. The study was supported by the Deutsche Forschungsgemeinschaft (SFB665 TP C4 and Exc 257) to MS.

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    Authors and Affiliations

    1. Neurology Institute, Schneider Children’s Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel

      Rachel Straussberg, Ayelet Halevy & Kaiyal Qassem

    2. Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany

      Gudrun Schottmann, Esther Gill, Franziska Seifert & Markus Schuelke

    3. Department of Neurology, Wolfson Medical Center, Holon, Israel

      Menachem Sadeh

    4. Biochimie Génétique et Moléculaire, Département de Biochimie Toxicologie et Pharmacologie Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France

      John Rendu

    5. Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany

      Peter F. M. van der Ven

    6. Institute of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany

      Werner Stenzel

    7. Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany

      Markus Schuelke

    Authors
    1. Rachel Straussberg
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    4. Esther Gill
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    9. Peter F. M. van der Ven
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    Corresponding author

    Correspondence to Markus Schuelke.

    Additional information

    R. Straussberg and G. Schottmann contributed equally to this work.

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    Straussberg, R., Schottmann, G., Sadeh, M. et al. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Acta Neuropathol 132, 475–478 (2016). https://doi.org/10.1007/s00401-016-1602-9

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    • DOI: https://doi.org/10.1007/s00401-016-1602-9

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