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- Title
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
- Authors
Kuhm, Christoph; Gallenmüller, Constanze; Dörk, Thilo; Menzel, Moritz; Biskup, Saskia; Klopstock, Thomas
- Abstract
The article describes the case of a 45-year-old German female patient with a history of generalized dystonia, and who was diagnosed with Ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22-23. The diagnosis was confirmed after performing physical examination, genetic testing and Sanger sequencing. Western blot analysis was also performed to assess functional consequences of ATM mutations.
- Subjects
ATAXIA telangiectasia; DIAGNOSIS
- Publication
Journal of Neurology, 2015, Vol 262, Issue 3, p768
- ISSN
0340-5354
- Publication type
Letter
- DOI
10.1007/s00415-015-7636-4