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

Authors: Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog 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, Ash Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez, Marion Masingue, Diane Giovannini, Martin Delatycki, Elsdon Storey, R J McKinlay Gardner, David Amor, Garth Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, OPDM study group, Genomics England, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A McLean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira Deveson, Paul J Lockhart, Phillipa J Lamont, Michael C Fahey, Enrico Bugiardini, Gianina Ravenscroft