High-throughput mutational analysis of <it>TOR1A </it>in primary dystonia

• Main Authors: Truong Daniel D (Author), Tarsy Daniel (Author), Simon David K (Author), Hedera Peter (Author), Uitti Ryan J (Author), Wszolek Zbigniew K (Author), Batish Sat (Author), Blitzer Andrew (Author), Paniello Randal C (Author), Karimi Morvarid (Author), Tabbal Samer D (Author), Racette Brad A (Author), Perlmutter Joel S (Author), Bastian Robert W (Author), Xiao Jianfeng (Author), Frei Karen P (Author), Pfeiffer Ronald F (Author), Gong Suzhen (Author), Zhao Yu (Author), LeDoux Mark S (Author)
• Format: Book
• Published: BMC, 2009-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Although the c.904_906delGAG mutation in Exon 5 of <it>TOR1A </it>typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.86...