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  • Title: Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.
    Author: Gasser T, Windgassen K, Bereznai B, Kabus C, Ludolph AC.
    Journal: Ann Neurol; 1998 Jul; 44(1):126-8. PubMed ID: 9667600.
    Abstract:
    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 sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation.
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