[S-08] Symposium 08「Oculopharyngodistal myopathy in Asian and Oceanian region」

[S-08-6] A CCG expansion in ABCD3 causes oculopharyngodistal myopathy

Gina Ravenscroft^1,2, Sarah J. Beecroft^1,2, Stefano G. Facchini³, Riccardo J. Curro³, Macarena Cabrera-serrano^2,9, Igor Stevanovski⁴, Sanjog Chintalaphani⁴, Hasindu Gamaarachchi⁴, Ben Weisburd⁵, Chiara Folland^1,2, Catriona Mclean⁶, Nigel G. Laing^1,2, Tanya Stojkovic⁷, Henry Houlden³, Michael Hanna³, Ira Deveson⁴, Paul Lockhart¹⁰, Phillipa Lamont⁹, Michael Fahey⁸, Enrico Bugiardini³, Andrea Cortese³ (1.University of Western Australia, Australia, 2.Harry Perkins Institute of Medical Research, Australia, 3.University College London, MRC Centre for Neuromuscular Diseases, UK, 4.Garvan Institute of Medical Research, Australia, 5.Broad Institute of MIT and Harvard, USA, 6.Department of Anatomical Pathology, Alfred Hospital, Australia, 7.Institut de Myologie, France, 8.Monash Children's Hospital, Australia, 9.Royal Perth Hospital, Australia, 10.Murdoch Children's Research Institute, Australia)