Affiliation: | 1. Dubowitz Neuromuscular Centre, Department of Pediatrics, Hammersmith Hospital, Imperial College London, UK These authors contributed equally to this paper;2. Department of Human Genetics, University of Newcastle upon Tyne, UK;3. Dubowitz Neuromuscular Centre, Department of Pediatrics, Hammersmith Hospital, Imperial College London, UK;4. Dubowitz Neuromuscular Centre, Department of Pediatrics, Hammersmith Hospital, Imperial College London, UK Department of Histopathology, RJAH Orthopaedic Hospital, Oswestry, UK;5. Department of Neurology, University of Utah, Salt Lake City, UT, USA |