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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

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Acknowledgements

We thank the members of the families for their interest in this study, Wolfram Kress, Michel Fardeau, and Daniel Hantaï for material transfer, and Catherine Koch, Anaïs Chanut, and Raphaël Schneider for their valuable technical assistance. This work was funded by INSERM, CNRS, University of Strasbourg, Agence Nationale de la Recherche (ANR-11-BSV1-026, ANR-10-LABX-0030-INRT, ANR-10-IDEX-0002, and FRISBI ANR-10-INBS-05), Fondation Maladies Rares, Association Française contre les Myopathies (AFM-17088), the Muscular Dystrophy Association (MDA-186985), and the Swiss National Science Foundation (323530_158118 to MB). The EuroBioBank and Telethon Network of Genetic Biobanks (GTB12001F to MM) are gratefully acknowledged for providing biological samples.

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Authors and Affiliations

  1. IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France

    Johann Böhm, Xavière Lornage, Catherine Birck, Florence Granger, Maxime Sartori & Jocelyn Laporte

  2. CureVac AG, Tübingen, Germany

    Frederic Chevessier

  3. IRCCS Istituto Neurologico C. Besta, Milan, Italy

    Simona Zanotti & Marina Mora

  4. IRCCS San Camillo Hospital, Venice, Italy

    Paola Cudia

  5. University of Geneva, Geneva, Switzerland

    Monica Bulla

  6. Institut de Myologie, Paris, France

    Mai Thao Bui, Edoardo Malfatti & Norma B. Romero

  7. Ruhr-University Bochum, Bochum, Germany

    Christiane Schneider-Gold

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  1. Johann Böhm
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  2. Xavière Lornage
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  14. Marina Mora
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  15. Jocelyn Laporte
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Corresponding authors

Correspondence to Johann Böhm or Jocelyn Laporte.

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Böhm, J., Lornage, X., Chevessier, F. et al. CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. Acta Neuropathol 135, 149–151 (2018). https://doi.org/10.1007/s00401-017-1775-x

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