Article
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Journal of child neurology - 1 Jul 2005
Tsao Chang Y, Paulson George
Abstract excerpt
Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We report two American children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with...
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