Article
High-throughput mutational analysis of TOR1A in primary dystonia.
BMC medical genetics - 11 Mar 2009
Xiao Jianfeng, Bastian Robert W, Perlmutter Joel S, Racette Brad A, Tabbal Samer D, Karimi Morvarid, Paniello Randal C, Blitzer Andrew, Batish Sat Dev, Wszolek Zbigniew K, Uitti Ryan J, Hedera Peter, Simon David K, Tarsy Daniel, Truong Daniel D, Frei Karen P, Pfeiffer Ronald F, Gong Suzhen, Zhao Yu, LeDoux Mark S
Abstract excerpt
BACKGROUND: Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some...
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