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 S, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Bahlo M, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez G, Masingue M, Giovannini D, Delatycki M, Storey E, Gardner M, Amor D, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M, Quinlivan R, Hammans S, Tucci A, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson I, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G

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