Article
DYT1 mutation in French families with idiopathic torsion dystonia.
Brain : a journal of neurology - 1 Jan 1999
Lebre A S, Durr A, Jedynak P, Ponsot G, Vidailhet M, Agid Y, Brice A
Abstract excerpt
A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4...
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