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 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected...
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