ABCD3基因中的CCG重复扩展导致欧洲裔个体罹患眼咽远端肌病。Cortese A、Beecroft SJ、Facchini S、Curro R、Cabrera-Serrano M、Stevanovski I、Chintalaphani SR、Gamaarachchi H、Weisburd B、Folland C、Monahan G、Scriba CK、Dofash L、Johari M、Grosz BR、Ellis M、Fearnley LG、Tankard R、Read J、Merve A、Dominik N、Vegezzi E、Schnekenberg RP、Fernandez-Eulate G、Masingue M、Giovannini D、Delatycki MB、Storey E、Gardner M、Amor DJ、Nicholson G、Vucic S、Henderson RD、Robertson T、Dyke J、Fabian V、Mastaglia F、Davis MR、Kennerson M；OPDM研究组；Quinlivan R、Hammans S、Tucci A、Bahlo M、McLean CA、Laing NG、Stojkovic T、Houlden H、Hanna MG、Deveson IW、Lockhart PJ、Lamont PJ、Fahey MC、Bugiardini E、Ravenscroft G。《Nat Commun》（自然通讯），2024年7月27日；15(1):6327。doi：10.1038/s41467-024-49950-2。
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2.