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Article

Blepharospasm in a multiplex African-American pedigree.

Journal of the neurological sciences - 15 Mar 2016

Xiao Jianfeng, Thompson Misty M, Vemula Satya R, LeDoux Mark S

Abstract excerpt

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 rare cases of BSP, the genetic causes of this focal dystonia remain largely unknown. Moreover, in the absence of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26944167
DOI: 10.1016/j.jns.2016.02.003
PMCID: PMC4779500

Genes

THAP1
GNAL

Variants

Provenance

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