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Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

✍ Scribed by Zirn, B; Grundmann, K; Huppke, P; Puthenparampil, J; Wolburg, H; Riess, O; Muller, U


Book ID
118235576
Publisher
BMJ Publishing Group
Year
2008
Tongue
English
Weight
594 KB
Volume
79
Category
Article
ISSN
0022-3050

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## Abstract Early‐onset torsion dystonia, an autosomal dominant disease associated with the DYT1 locus on 9q34, is the most frequent genetic form of dystonia. Recent work has revealed that the causative mutation in most cases is deletion of a glutamate residue from the carboxy terminal of torsinA,