About the Authors

Valentina Sardone

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Validation, Writing – original draft

Affiliation Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

Matthew Ellis

Roles Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Writing – review & editing

Affiliation Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, United Kingdom

Silvia Torelli

Roles Conceptualization, Formal analysis, Validation, Writing – original draft

Affiliation Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

Lucy Feng

Roles Investigation, Methodology, Writing – review & editing

Affiliations Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom, Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom

Darren Chambers

Roles Investigation, Methodology, Writing – review & editing

Affiliations Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom, Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom

Deborah Eastwood

Roles Methodology, Writing – review & editing

Affiliations Department of Orthopaedics, Great Ormond Street Hospital, London, United Kingdom, The Royal National Orthopaedic Hospital, Stanmore, United Kingdom

Caroline Sewry

Roles Conceptualization, Investigation, Methodology, Supervision, Writing – review & editing

Affiliations Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom, Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom

Rahul Phadke

Roles Conceptualization, Investigation, Methodology, Supervision, Writing – review & editing

Affiliations Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom, Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom

Jennifer E. Morgan

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Supervision, Validation, Writing – original draft

Affiliation Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

Francesco Muntoni

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Supervision, Validation, Writing – original draft

f.muntoni@ucl.ac.uk

Affiliations Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom

Competing Interests

VS was partially sponsored by Sarepta Therapeutics. FM has served on scientific advisory boards for Roche; Summit Therapeutics; Italfarmaco; Pfizer and Sarepta Therapeutics. He serves on the editorial board of Neuromuscular Disorders and Neuropediatrics. His institution (UCL) receives research support from the European Union, the Medical Research Council, the Wellcome Trust, the Association Francaise Contre les Myopathies (AFM), the Muscular Dystrophy Campaign, the Great Ormond Street Hospital (GOSH) Biomedical Research Centre, Genethon and National Institutes of Health (NIH). His institutions (UCL and GOSH) receive funding for clinical trials from Prosensa/Biomarin, the British Heat Foundation, Summit Therapeutics, Roche, ISIS, Pfizer, Sarepta and the European Community. CAS serves on the advisor board of Audentes. She serves on the editorial board of Neuromuscular Disorders and Neuropathology Applied Neurobiology. This does not alter the authors’ adherence to PLOS ONE policies on sharing data and materials.