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dentatorubral-pallidoluysian atrophy


Definition: a hereditary disorder [MIM#125370] common in Japan that manifests itself with progressive ataxia, myoclonus, seizures, and cognitive impairment; due to abnormal CAG repeats on chromosome. The gene locus is 12p13.31.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.