Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

• Main Authors: Kreuz Friedmar (Author), Bürk Katrin (Author), Minnerop Martina (Author), Bernard Veronica (Author), Gillessen-Kaesbach Gabriele (Author), Zühlke Christine (Author)
• Format: Book
• Published: BMC, 2009-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is a neurodegenerative disorder characterized by juvenile or adolescent age of onset, gait ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculom...