Article
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Human mutation - 1 Feb 2012
Al Tassan Nada, Khalil Dania, Shinwari Jameela, Al Sharif Latifa, Bavi Prashant, Abduljaleel Zainularifeen, Abu Dhaim Nada, Magrashi Amna, Bobis Steve, Ahmed Hala, Alahmed Samaher, Bohlega Saeed
Abstract excerpt
Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these overlapping phenotypes. Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive form of ataxia caused by mutations in the SETX gene. We report on a...
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