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Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

✍ Scribed by T. Naiya; A. Biswas; R. Neogi; S. Datta; A. K. Misra; S. K. Das; K. Ray; J. Ray


Book ID
109337451
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
501 KB
Volume
114
Category
Article
ISSN
0001-6314

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Atypical phenotypes and clinical variabi
✍ Mattia Gambarin; Enza Maria Valente; Paolo Liberini; Giuseppe Barrano; Alberto B πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 61 KB

## Abstract The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial–cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family wi