-Related Disorder Presenting with Late-Onset Dystonia and Spastic Paraplegia.
作者信息
de Assis Pereira Matos Paula Camila Alves, Gama Maria Thereza Drumond, Bezerra Márcio Luiz Escórcio, da Rocha Antônio José, Barsottini Orlando G P, Pedroso José Luiz
机构信息
Department of Neurology, Ataxia Unit Universidade Federal de São Paulo São Paulo Brazil.
Department of Neurophysiology Universidade Federal de São Paulo São Paulo Brazil.
出版信息
Mov Disord Clin Pract. 2020 Apr 18;7(4):467-469. doi: 10.1002/mdc3.12945. eCollection 2020 May.
Abstract
摘要
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Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.某基因的突变会导致低髓鞘性脑白质营养不良和核糖体RNA调控异常。
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