Article
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2014
Dobričić Valerija, Kresojević Nikola, Westenberger Ana, Svetel Marina, Tomić Aleksandra, Ralić Vesna, Petrović Igor, Lukić Milica Ječmenica, Lohmann Katja, Novaković Ivana, Klein Christine, Kostić Vladimir S
Abstract excerpt
BACKGROUND: Mutations 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. METHODS: The authors used Sanger sequencing to test for changes in the...
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