Article
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2014
Stamelou Maria, Charlesworth Gavin, Cordivari Carla, Schneider Susanne A, Kägi Georg, Sheerin Una-Marie, Rubio-Agusti Ignacio, Batla Amit, Houlden Henry, Wood Nicholas W, Bhatia Kailash P
Abstract excerpt
Genes causing primary dystonia are rare. Recently, pathogenic mutations in the anoctamin 3 gene (ANO3) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia-24 (DYT24). Here, we expand on the phenotypic spectrum of DYT24 and provide demonstrative videos. Moreover, tremor recordings were performed, and back-averaged electroencephalography,...
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