title: Novel N-terminal truncating CLCN1 mutation in severe Becker disease.
authors.affiliation: Department of Neuropediatrics, Goethe University, Frankfurt am Main, Germany.
authors.forename: Franziska
authors.initials: F
authors.lastname: Hoche
authors.forename: Kay
authors.initials: K
authors.lastname: Seidel
authors.forename: Eduardo
authors.initials: E
authors.lastname: Barbosa-Sicard
authors.forename: Tonio
authors.initials: T
authors.lastname: Heidegger
authors.forename: Jun-Suk
authors.initials: JS
authors.lastname: Kang
authors.forename: Rainer
authors.initials: R
authors.lastname: Koenig
authors.forename: Matthias
authors.initials: M
authors.lastname: Kieslich
mesh_terms: D000293:Adolescent; D018118:Chloride Channels / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009224:Myotonia Congenita / Q000235:genetics*
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels