Article
Phenotypic variability of the DYT1 mutation in German dystonia patients.
Acta neurologica Scandinavica - 1 Apr 1999
Leube B, Kessler K R, Ferbert A, Ebke M, Schwendemann G, Erbguth F, Benecke R, Auburger G
Abstract excerpt
Primary dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained involuntary muscle contractions causing repetitive movements and/or abnormal postures. Recently, the gene locus (DYT1) and mutation responsible for a substantial number of cases suffering from early-onset primary dystonia was described. Here we report 2 German families and 1 sporadic patient with...
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