释义 |
dentatorubral-pallidoluysian atrophy
dentatorubral-pallidoluysian atrophya 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.AcronymsSeeDRPLA |