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

by Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Oflazer, Piraye, Başak, Nazli A., Kayserili, Hülya, Yeşil, Gözde, Malfatti, Edoardo, Lilliker, James B., Wicklund, Matthew, Pitceathly, Robert D. S., Brady, Stefen, Brais, Bernard, Pellerin, David, Zuchner, Stephan, Danzi, Matt C., Grandis, Marina, Comi, Giacomo P., Corti, Stefania P., Abati, Elena, Toscano, Antonio, Manini, Arianna, Ghia, Arianna, Tassorelli, Cristina, Quartesan, Ilaria, Simone, Roberto, Rossor, Alexander M., Reilly, Mary M., Carroll, Liam, Straub, Volker, Udd, Bjarne, Chen, Zhiyong, Bonne, Gisèle, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina
Published in Nature communications (27.07.2024)

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