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Acknowledgements

NAMEvdB received a grant from the Prinses Beatrix Spierfonds. Exome sequencing took place as part of the “Myocapture sequencing project”, financed through the France Génomique National infrastructure (“Investissements d’Avenir” program ANR-10-INBS-09) and the Fondation Maladies Rares.

Authors contributions

NAMEvdB analysis and interpretation of data, drafting of manuscript. IN acquisition of data, critical revision of manuscript for intellectual content. RF acquisition of data, critical revision of manuscript for intellectual content. TL acquisition of data, critical revision of manuscript for intellectual content. VG acquisition of data, critical revision of manuscript for intellectual content. EL acquisition of data, critical revision of manuscript for intellectual content. AB acquisition of data, critical revision of manuscript for intellectual content. CM acquisition of data, critical revision of manuscript for intellectual content. NBR acquisition of data, critical revision of manuscript for intellectual content. GB acquisition of data, critical revision of manuscript for intellectual content. AB acquisition of data, analysis and interpretation of data, critical revision of manuscript for intellectual content. All authors read, revised and approved the final manuscript.

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Affiliations

  1. Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands

    • Nadine AME van der Beek
  2. Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, F-75013, Paris, France

    • Isabelle Nelson
    •  & Gisèle Bonne
  3. Service de Biochimie et Biologie Moléculaire Grand Est, Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France

    • Roseline Froissart
  4. Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, Hôpital Purpan, and INSERM U1037, CRCT, Toulouse, France

    • Thierry Levade
  5. INSERM U1037, CRCT, Toulouse, France

    • Virginie Garcia
  6. APHP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Institut de Myologie, Laboratoire de Pathologie Risler, GH Pitié-Salpêtrière, Paris, France

    • Emmanuelle Lacene
    •  & Norma B. Romero
  7. Centre National de Recherche en Génétique Humaine (CNRGH), Evry, France

    • Emmanuelle Lacene
    • , Anne Boland
    • , Cécile Masson
    •  & Norma B. Romero
  8. Bioinformatics Core Facility, Université Paris Descartes - Structure Fédérative de Recherche Necker, INSERM US24/CNRS, UMS3633, Paris, France

    • Emmanuelle Lacene
    • , Cécile Masson
    •  & Norma B. Romero
  9. APHP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France

    • Emmanuelle Lacene
    • , Norma B. Romero
    • , Tanya Stojkovic
    •  & Anthony Béhin

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Conflict of interest

The authors declare that they have no conflict of interest.

Statement

All the raw data presented in this study are available to the corresponding author.

Corresponding author

Correspondence to Anthony Béhin.

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DOI

https://doi.org/10.1038/s41431-018-0250-z