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GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany

✍ Scribed by Christoph Kamm; Elisabete Castelon-Konkiewitz; Markus Naumann; Florian Heinen; Martina Brack; Angela Nebe; Andres Ceballos-Baumann; Thomas Gasser


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
41 KB
Volume
14
Category
Article
ISSN
0885-3185

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Expression of the early-onset torsion dy
✍ Sarah J. Augood; John B. Penney Jr; Ingrid K. Friberg; Xandra O. Breakefield; An πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 748 KB

## 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,

A common 3-bp deletion in the DYT1 gene
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Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early-onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al, 1997) encodes an ATP-binding protein torsin A. A uni