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A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in theDYT1gene with a unique clinical presentation

โœ Scribed by T. Ikeuchi; T. Shimohata; R. Nakano; R. Koide; H. Takano; S. Tsuji


Publisher
Springer
Year
1999
Tongue
English
Weight
92 KB
Volume
2
Category
Article
ISSN
1364-6745

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๐Ÿ“œ SIMILAR VOLUMES


A common 3-bp deletion in the DYT1 gene
โœ Petr A. Slominsky; Elena D. Markova; Marya I. Shadrina; Sergey N. Illarioshkin; ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 76 KB

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