Mutations in a long non-coding RNA cause Myoclonus Dystonia

长非编码 RNA 突变导致肌阵挛肌张力障碍

• 批准号: 322644
• 负责人: Bulman Dennis E
• 金额: $ 24.87万
• 依托单位: Children's Hospital of Eastern Ontario Research Institute Inc
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2015
• 资助国家: 加拿大
• 起止时间: 2015-03-01 至 2018-03-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=322644&lang=en
• 关键词: Disease; Dystonia; Genes; Myoclonus; Non Coding Rna; Rare Disease

Myoclonus dystonia (MD) is a debilitating neurological disorder where patients have abnormal movements. The disorder can be broken down into myoclonus, rapid muscle contractions and dystonia, which is a sustained twisting movements resulting in abnormal p

肌阵挛肌张力障碍(MD)是一种衰弱的神经疾病，患者有异常的运动。这种障碍可分为肌阵挛、快速肌肉收缩和肌张力障碍，后者是一种持续的扭曲运动，导致P异常。