Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia

J Neurol. 2015 Mar;262(3):768-70. doi: 10.1007/s00415-015-7636-4. Epub 2015 Jan 9.

Authors

Christoph Kuhm¹, Constanze Gallenmüller, Thilo Dörk, Moritz Menzel, Saskia Biskup, Thomas Klopstock

Affiliation

¹ Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany.

PMID: 25572163
DOI: 10.1007/s00415-015-7636-4

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Ataxia Telangiectasia / genetics
Ataxia Telangiectasia Mutated Proteins / genetics*
Dystonic Disorders / complications
Dystonic Disorders / genetics*
Female
Germany
Humans
Middle Aged
Mutation / genetics*

Substances

Ataxia Telangiectasia Mutated Proteins