Article
Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
Neuromuscular disorders : NMD - 1 Dec 2007
Nahas S A, Duquette A, Roddier K, Gatti R A, Brais B
Abstract excerpt
Mutations in senataxin have been described recently in 24 cases of French-Canadian descent with ataxia-oculomotor apraxia 2. This recessive ataxia is associated with an elevation in alpha-fetoprotein as in ataxia-telangiectasia. Because ataxia-telangiectasia cells are highly radiosensitive, we used a colony survival assay to measure the radiosensitivity of lymphoblastoid cell lines derived from five...
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