Article
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.
Neurobiology of disease - 1 Feb 2003
Rostasy Kevin, Augood Sarah J, Hewett Jeffrey W, Leung Joanne Chung-on, Sasaki Hikaru, Ozelius Laurie J, Ramesh Vijaya, Standaert David G, Breakefield Xandra O, Hedreen John C
Abstract excerpt
Familial, early onset, generalized torsion dystonia is the most common and severe primary dystonia. Most cases are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A (DYT1) gene, which is widely expressed in human brain and encodes the protein torsinA. This study compares neuropath...
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