title: Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
authors.affiliation: Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Kuhm
authors.forename: Constanze
authors.initials: C
authors.lastname: Gallenmüller
authors.forename: Thilo
authors.initials: T
authors.lastname: Dörk
authors.forename: Moritz
authors.initials: M
authors.lastname: Menzel
authors.forename: Saskia
authors.initials: S
authors.lastname: Biskup
authors.forename: Thomas
authors.initials: T
authors.lastname: Klopstock
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D020821:Dystonic Disorders / Q000150:complications / Q000235:genetics*; D005260:Female; D005858:Germany; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: D064007:Ataxia Telangiectasia Mutated Proteins