Article
Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.
Annals of neurology - 1 Sept 1998
Klein C, Pramstaller P P, Castellan C C, Breakefield X O, Kramer P L, Ozelius L J
Abstract excerpt
The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 defin...
Topics
- Adolescent
- Adult
- Child, Preschool
- Chromosomes, Human, Pair 18
- Chromosomes, Human, Pair 8
- Chromosomes, Human, Pair 9
- DNA Mutational Analysis
- Dystonia Musculorum Deformans
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- Italy
- Lod Score
- Male
- Middle Aged
- Pedigree
- Phenotype