Article
Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.
Annals of neurology - 1 Jul 1998
Gasser T, Windgassen K, Bereznai B, Kabus C, Ludolph A C
Abstract excerpt
Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5...
Topics
- Adolescent
- Adult
- Base Sequence
- DNA Mutational Analysis
- Dystonia Musculorum Deformans
- Female
- Genetic Linkage
- Genetic Markers
- Handwriting
- Humans
- Lod Score
- Male
- Middle Aged
- Muscle Cramp
- Pedigree
- Phenotype
- Point Mutation
- Sequence Deletion