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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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Détails bibliographiques
Publié dans:J Neurol Sci
Auteurs principaux: Xiao, Jianfeng, Thompson, Misty M., Vemula, Satya R., LeDoux, Mark S.
Format: Artigo
Langue:Inglês
Publié: 2016
Sujets:
Accès en ligne: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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