The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations

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 pr...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2014
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4150528/
https://ncbi.nlm.nih.gov/pubmed/24442708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.25802
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