ATP1A3 相关疾病表现为快速发作的肌张力障碍 - 帕金森病伴突出的肌阵挛症和夸张的惊吓。
关键词: ATP1A3 DYT/PARK-ATP1A3 Myoclonus Na+/K+-ATPase Rapid onset dystonia-parkinsonism
Mesh : Humans Dystonia / complications Myoclonus / complications diagnosis Mutation Dystonic Disorders / complications diagnosis genetics Parkinsonian Disorders / complications genetics Sodium-Potassium-Exchanging ATPase
来 源: DOI:10.1016/j.parkreldis.2023.105864