The role of torsinA in dystonia.

Abstract excerpt

DYT1 dystonia is an autosomal-dominant movement disorder, characterised by early onset of involuntary sustained muscle contractions. It is caused by a 3-bp deletion in the DYT1 gene, which results in the deletion of a single glutamate residue in the C-terminus of the protein torsinA. TorsinA is a member of the AAA-ATPase family of; chaperones with multiple functions in the cell. There is no evidence of...

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