A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics-Reference-Cited by-同舟云学术

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

Published:2016-12 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Blackburn Patrick R.,Zimmermann Michael T.,Gass Jennifer M.,Harris Kimberly G.,Cousin Margot A.,Boczek Nicole J.,Ross Owen A.,Klee Eric W.,Brazis Paul W.,Van Gerpen Jay A.,Atwal Paldeep S.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0354-7.pdf

Reference23 articles.

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3. Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin U-M, Preza E, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012;91:1041–50.

4. Münchau A, Valente EM, Davis MB, Stinton V, Wood NW, Quinn NP, et al. A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord. 2000;15:954–9.

5. Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin U-M, et al. The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord. 2014;29:928–34.

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