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BackgroundMutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult‐onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.
MethodsThe authors used Sanger sequencing to test for changes...
BackgroundGNAL mutations have been shown to cause adult‐onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.
MethodsTo test the frequency of GNAL mutations in a series of 137 German patients with sporadic dystonia patients we used next‐generation sequencing of amplicon‐derived barcoded...
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