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Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances

Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here, improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the firs...

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Bibliographic Details
Main Authors: Kreisel, Stefan H. (Author) , Binder, Johannes (Author) , Wöhrle, Johannes C. (Author) , Krauss, Joachim K. (Author) , Hofmann, Sabine (Author) , Bauer, Matthias F. (Author) , Hennerici, Michael G. (Author) , Bäzner, Hansjörg (Author)
Format: Article (Journal)
Language:English
Published: 26 May 2004
In: Movement disorders
Year: 2004, Volume: 19, Issue: 10, Pages: 1241-1243
ISSN:1531-8257
DOI:10.1002/mds.20150
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/mds.20150
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Author Notes:Stefan H. Kreisel, Johannes Binder, Johannes C. Wöhrle, Joachim K. Krauss, Sabine Hofmann, Matthias F. Bauer, Michael G. Hennerici, and Hansjörg Bäzner
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Summary:Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here, improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time.
Item Description:Gesehen am 18.05.2022
Physical Description:Online Resource
ISSN:1531-8257
DOI:10.1002/mds.20150

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