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Petitprez, S; Tiab, L; Chen, Lie; Kappeler, Liliane; Rösler, Kai Michael; Schorderet, D; Abriel, Hugues; Burgunder, Jean-Marc (2008). A novel dominant mutation of the Nav1.4 {alpha}-subunit domain I leading to sodium channel myotonia. Neurology, 71(21), pp. 1669-1675. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1212/01.wnl.0000335168.86248.55
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
