首页> Nature communications> A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

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第一作者： Andrea,Cortese

第一单位： Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.;Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk.

作者： Andrea,Cortese ^[1] ; Sarah J,Beecroft ^[2] ; Stefano,Facchini ^[3] ; Riccardo,Curro ^[3] ; Macarena,Cabrera-Serrano ^[4] ; Igor,Stevanovski ^[5] ; Sanjog R,Chintalaphani ^[5] ; Hasindu,Gamaarachchi ^[6] ; Ben,Weisburd ^[7] ; Chiara,Folland ^[8] ; Gavin,Monahan ^[8] ; Carolin K,Scriba ^[9] ; Lein,Dofash ^[8] ; Mridul,Johari ^[8] ; Bianca R,Grosz ^[10] ; Melina,Ellis ^[10] ; Liam G,Fearnley ^[11] ; Rick,Tankard ^[12] ; Justin,Read ^[13] ; Ashirwad,Merve ^[14] ; Natalia,Dominik ^[15] ; Elisa,Vegezzi ^[16] ; Ricardo P,Schnekenberg ^[3] ; Gorka,Fernandez-Eulate ^[17] ; Marion,Masingue ^[17] ; Diane,Giovannini ^[18] ; Martin B,Delatycki ^[13] ; Elsdon,Storey ^[19] ; Mac,Gardner ^[20] ; David J,Amor ^[13] ; Garth,Nicholson ^[21] ; Steve,Vucic ^[22] ; Robert D,Henderson ^[23] ; Thomas,Robertson ^[24] ; Jason,Dyke ^[25] ; Vicki,Fabian ^[26] ; Frank,Mastaglia ^[27] ; Mark R,Davis ^[28] ; Marina,Kennerson ^[29] ; OPDM study group ^[30] ; Ros,Quinlivan ^[31] ; Simon,Hammans ^[32] ; Arianna,Tucci ^[11] ; Melanie,Bahlo ^[33] ; Catriona A,McLean ^[8] ; Nigel G,Laing ^[17] ; Tanya,Stojkovic ^[15] ; Henry,Houlden ^[15] ; Michael G,Hanna ^[5] ; Ira W,Deveson ^[13] ; Paul J,Lockhart ^[34] ; Phillipa J,Lamont ^[35] ; Michael C,Fahey ^[15] ; Enrico,Bugiardini ^[36] ; Gianina,Ravenscroft

作者单位： Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.;Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk. ^[1] Pawsey Supercomputing Research Centre, Kensington, WA, Australia. ^[2] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.;Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. ^[3] Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.;Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain. ^[4] Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.;Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia. ^[5] Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.;Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.;School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia. ^[6] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[7] Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.;Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. ^[8] Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. ^[9] Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.;Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia. ^[10] Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.;Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia. ^[11] Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia. ^[12] Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.;Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia. ^[13] Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom. ^[14] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. ^[15] IRCCS Mondino Foundation, Pavia, Italy. ^[16] Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France. ^[17] CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France. ^[18] Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia. ^[19] The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand. ^[20] Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.;Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia. ^[21] Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.;Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia. ^[22] Department of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.;UQ Centre for Clinical Research, Herston, QLD, Australia. ^[23] Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.;School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD, Australia. ^[24] PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.;School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia. ^[25] PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia. ^[26] Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia. ^[27] Neurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia. ^[28] Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.;Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.;Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia. ^[29] Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom. ^[30] Wessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom. ^[31] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.;William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. ^[32] Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.;Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia. ^[33] Neurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia. ^[34] Department of Paediatrics Monash Children's Hospital, Victoria, Australia. ^[35] Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.;Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au. ^[36]