最年轻的24型肌张力障碍患者病例报告及文献综述
Youngest presenting patient with dystonia 24 and review of the literature.
作者信息
Nelin Sarah, Hussey Richard, Faux Brian M, Rohena Luis
机构信息
Brooke Army Medical Center San Antonio TX USA.
出版信息
Clin Case Rep. 2018 Sep 15;6(11):2070-2074. doi: 10.1002/ccr3.1671. eCollection 2018 Nov.
Abstract
Dystonia 24 was first reported in 2000 as an autosomal dominant cause of dystonia caused by variants in the gene. Although many adults have been described with dystonia 24, since 2014, an increasing number of children have also been reported. Dystonia 24 should also be considered in the differential of a child with unexplained dystonia.
摘要
肌张力障碍24型于2000年首次被报道，是由该基因变异引起的常染色体显性遗传性肌张力障碍病因。虽然已有许多成年肌张力障碍24型患者的描述，但自2014年以来，也有越来越多的儿童患者被报道。对于不明原因肌张力障碍的儿童，鉴别诊断时也应考虑肌张力障碍24型。
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