A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

• Main Authors: Zamba-Papanicolaou Eleni (Author), Middleton Lefkos T (Author), Votsi Christina (Author), Georghiou Anthi (Author), Nicolaou Paschalis (Author), Christodoulou Kyproula (Author)
• Format: Book
• Published: BMC, 2008-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cere...