A CCG Expansion in ABCD3 Causes Oculopharyngodistal Myopathy in Individuals of European Ancestry
Andrea Cortese,Sarah J. Beecroft,Stefano Facchini,Riccardo Curro,Macarena Cabrera-Serrano,Igor Stevanovski,Sanjog R. Chintalaphani,Hasindu Gamaarachchi,Ben Weisburd,Chiara Folland,Gavin Monahan,Carolin K. Scriba,Lein Dofash,Mridul Johari,Bianca R. Grosz,Melina Ellis,Liam G. Fearnley,Rick Tankard,Justin Read,Ashirwad Merve,Natalia Dominik,Elisa Vegezzi,Ricardo P. Schnekenberg,Gorka Fernandez-Eulate,Marion Masingue,Diane Giovannini,Martin B. Delatycki,Elsdon Storey, Mac Gardner,David J. Amor,Garth Nicholson,Steve Vucic,Robert D. Henderson,Thomas Robertson,Jason Dyke,Vicki Fabian,Frank Mastaglia,Mark R. Davis,Marina Kennerson,Ros Quinlivan,Simon Hammans,Arianna Tucci,Melanie Bahlo,Catriona A. McLean,Nigel G. Laing,Tanya Stojkovic,Henry Houlden,Michael G. Hanna,Ira W. Deveson,Paul J. Lockhart,Phillipa J. Lamont,Michael C. Fahey,Enrico Bugiardini,Gianina Ravenscroft,Piraye Oflazer,Nazli A. Basak,Hulya Kayserili, Gozde Yesil,Edoardo Malfatti, James B. Lilliker,Matthew Wicklund,Robert D. S. Pitceathly,Stefen Brady,Bernard Brais,David Pellerin,Stephan Zuchner,Matt C. Danzi,Marina Grandis,Giacomo P. Comi,Stefania P. Corti,Elena Abati,Antonio Toscano,Arianna Manini, Arianna Ghia,Cristina Tassorelli,Ilaria Quartesan,Roberto Simone,Alexander M. Rossor,Mary M. Reilly,Liam Carroll,Volker Straub,Bjarne Udd,Zhiyong Chen,Gisele Bonne
NATURE COMMUNICATIONS（2024）
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