1. 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, University College London, WC1N 1EH London, UK
2. 2 Zentrum fuer Kinderheilkunde, Paediatrie I, University Hospital Essen, 45145 Essen, Germany
3. 3 Howard Hughes Medical Institute, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa, USA
4. 4 Department of Molecular Physiology and Biophysics, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA
5. 5 Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA
6. 6 Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA
7. 7 DNA Laboratory, GSTS Pathology, Guy’s Hospital, SE1 9RT, London, UK
8. 8 University Hospital Brno, Department of Neurology, 62500 Brno, Brno, Czech Republic
9. 9 Department Paediatrics, Birmingham Heartlands Hospital, B9 5SS Birmingham, UK
10. 10 Department of Clinical Genetics, Yorkhill Hospital, G3 8SJ Glasgow, UK
11. 11 Division of Neuropaediatrics and Muscular Disorders, Department of Paediatrics and Adolescent Medicine, University Hospital, Albert-Ludwigs University, 79106, Freiburg im Breisgau, Germany
12. 12 Neuromuscular Unit, Multiple Sclerosis Centre, University of Cagliari, 09124, Cagliari, Italy
13. 13 Cologne Centre for Genomics (CCG), Universität zu Köln, 50931, Cologne, Germany
14. 14 Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109, USA
15. 15 UCL Genetics Institute, University College London, WC1E 6BT, London, UK
16. 16 Wellcome Trust Sanger Institute, Hinxton, CB10 1SA Cambridge, UK
17. 17 Department of Pathology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA
18. 18 Wolfson Centre for Inherited Neuromuscular Disorders, RJAH Orthopaedic Hospital, SY10 7AG, Oswestry, UK
19. 19 University Pierre et Marie Curie Paris VI, UM 76, INSERM U 974, CNRS UMR 7215, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France