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Blepharospasm in a multiplex African-American pedigree

BACKGROUND: Isolated blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles. Genetic studies of BSP have been limited by the paucity of large multiplex pedigrees. Although sequence variants (SVs) in THAP1 have been reported in ra...

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Publicat a:J Neurol Sci
Autors principals: Xiao, Jianfeng, Thompson, Misty M., Vemula, Satya R., LeDoux, Mark S.
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4779500/
https://ncbi.nlm.nih.gov/pubmed/26944167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2016.02.003
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