About the Authors

Tracey A. Willis

Contributed equally to this work with: Tracey A. Willis, Kieren G. Hollingsworth

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Kieren G. Hollingsworth

Contributed equally to this work with: Tracey A. Willis, Kieren G. Hollingsworth

kieren.hollingsworth@newcastle.ac.uk

Affiliation Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Anna Coombs

Affiliation Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Marie-Louise Sveen

Affiliation Department of Neurology, University of Copenhagen, Copenhagen, Denmark

Søren Andersen

Affiliation Department of Neurology, University of Copenhagen, Copenhagen, Denmark

Tanya Stojkovic

Affiliation AP-HP, Institute of Myology, Groupe Hospitalier Pitié-Salpêtrière, Paris, France

Michelle Eagle

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Anna Mayhew

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Paulo L. de Sousa

Affiliation NMR Laboratory, Institute of Myology and CEA, Paris, France

Liz Dewar

Affiliation MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, United Kingdom

Jasper M. Morrow

Affiliation MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, United Kingdom

Christopher D. J. Sinclair

Affiliation MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, United Kingdom

John S. Thornton

Affiliation MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, United Kingdom

Kate Bushby

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Hanns Lochmüller

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Michael G. Hanna

Affiliation MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, United Kingdom

Jean-Yves Hogrel

Affiliation Institute of Myology, Groupe Hospitalier Pitié-Salpêtrière, Paris, France

Pierre G. Carlier

Affiliation NMR Laboratory, Institute of Myology and CEA, Paris, France

John Vissing

Affiliation Department of Neurology, University of Copenhagen, Copenhagen, Denmark

Volker Straub

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom

Competing Interests

Professor Vissing has given lectures for and received travel expenses from Genzyme. Professor Straub serves on the advisory boards of Genzyme and Acceleron, on the Joint Imaging Committee of Prosensa for which he receives research support, and has presented lectures for Genzyme. All other authors report no disclosures. This does not alter the authors’ adherence to all the PLOS ONE policies on sharing data and materials.

Author Contributions

Conceived and designed the experiments: TAW KGH VS. Performed the experiments: TAW KGH AC MLS SA TS ME AM PLS LD JMM CDJS JST KB HL MGH JYH PGC JV VS. Analyzed the data: TAW KGH. Contributed reagents/materials/analysis tools: TAW KGH AC MLS SA TS ME AM PLS LD JMM CDJS JST KB HL MGH JYH PGC JV VS. Wrote the paper: TAW KGH AC MLS SA TS ME AM PLS LD JMM CDJS JST KB HL MGH JYH PGC JV VS.