RYR1-related myopathies: a wide spectrum of phenotypes throughout life

Author:

Snoeck M.1,van Engelen B. G. M.2,Küsters B.34,Lammens M.35,Meijer R.6,Molenaar J. P. F.2,Raaphorst J.27,Verschuuren-Bemelmans C. C.8,Straathof C. S. M.9,Sie L. T. L.10,de Coo I. F.11,van der Pol W. L.12,de Visser M.7,Scheffer H.6,Treves S.13,Jungbluth H.141516,Voermans N. C.2,Kamsteeg E.-J.6

Affiliation:

1. National MH Investigation Unit; Department of Anesthesiology; Canisius Wilhelmina Hospital; Nijmegen The Netherlands

2. Department of Neurology; Radboud University Medical Centre; Nijmegen The Netherlands

3. Department of Pathology; Radboud University Medical Centre; Nijmegen The Netherlands

4. Department of Pathology; Maastricht University Medical Centre; Maastricht The Netherlands

5. Department of Pathology; Antwerp University Hospital; University of Antwerp; Edegem Belgium

6. Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands

7. Department of Neurology; Academic Medical Centre; Amsterdam The Netherlands

8. Department of Genetics; University of Groningen; University Medical Center Groningen; Groningen The Netherlands

9. Department of Neurology; Leiden University Medical Centre; Leiden The Netherlands

10. Department of Neuropediatrics; Juliana Children's Hospital/Haga Hospital; The Hague; Nijmegen The Netherlands

11. Department of Neurology; Erasmus Medical Centre; Rotterdam The Netherlands

12. Department of Neurology and Neurosurgery; Brain Center Rudolf Magnus; University Medical Centre Utrecht; Utrecht The Netherlands

13. Departments of Anesthesia and Biomedicine; University Hospital Basel; Basel Switzerland

14. Department of Paediatric Neurology; Neuromuscular Service; Evelina Children's Hospital; Guy's and St Thomas' Hospital NHS Foundation Trust; London UK

15. Randall Division for Cell and Molecular Biophysics; Muscle Signalling Section; King's College; London UK

16. Department of Basic and Clinical Neuroscience; IoPPN; King's College; London UK

Funder

Prinses Beatrix spierfonds

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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