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Title
Frequency of the DYT1 mutation in primary torsion dystonia without family history.
Authors
Brassat, D; Camuzat, A; Vidailhet, M; Feki, I; Jedynak, P; Klap, P; Agid, Y; Dürr, A; Brice, A
Abstract
Idiopathic torsion dystonia is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 of the DYT1 gene was the first mutation found, in early-onset dystonia, with an autosomal dominant transmission and reduced penetrance.
Publication
Archives of neurology, 2000, Vol 57, Issue 3, p333