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Chen, Lie; Schaerer, Martin; Lu, Zen H; Lang, Doris; Joncourt, Franziska; Weis, Joachim; Fritschi, Juerg; Kappeler, Lilianne; Gallati, Sabina; Sigel, Erwin; Burgunder, Jean-Marc (2004). Exon 17 skipping in CLCN1 leads to recessive myotonia congenita. Muscle & nerve, 29(5), pp. 670-6. New York, N.Y.: John Wiley & Sons 10.1002/mus.20005