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Article

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

Parkinsonism & related disorders - 1 Jun 2012

LeDoux Mark S, Xiao Jianfeng, Rudzińska Monika, Bastian Robert W, Wszolek Zbigniew K, Van Gerpen Jay A, Puschmann Andreas, Momčilović Dragana, Vemula Satya R, Zhao Yu

Abstract excerpt

An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years. In previous work, we screened 1114 subjects with mainly adult-onset primary dystonia (Neurology 2010; 74:229-238) and identified 6 missense mutations in THAP1. For this report, we screened 750 additional subjects for mutations in coding regions of...

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Identifiers

PMID: 22377579
DOI: 10.1016/j.parkreldis.2012.02.001
PMCID: PMC3358360

Genes

THAP1

Variants

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