Article
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Human molecular genetics - 15 Jun 2013
Vemula Satya R, Puschmann Andreas, Xiao Jianfeng, Zhao Yu, Rudzińska Monika, Frei Karen P, Truong Daniel D, Wszolek Zbigniew K, LeDoux Mark S
Abstract excerpt
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at least one first- or second-degree relative to dystonia, large families suited for linkage analysis are exceptional. After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense...
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