Phenotypic characterization of DYT13 pri
β
Anna Rita Bentivoglio; Tamara Ialongo; M. Fiorella Contarino; Enza M. Valente; A
π
Article
π
2004
π
John Wiley and Sons
π
English
β 233 KB
We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re-evaluated in March 2000: at that time, 3 more