Article
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
Cold Spring Harbor molecular case studies - 1 Nov 2017
Inlora Jingga, Sailani M Reza, Khodadadi Hamidreza, Teymurinezhad Ahmad, Takahashi Shinichi, Bernstein Jonathan A, Garshasbi Masoud, Snyder Michael P
Abstract excerpt
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in...
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