肌张力障碍是MEGDEL综合征的常见表型特征。
Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome.
作者信息
Finsterer Josef, Scorza Fulvio A, Fiorini Ana C, Scorza Carla A, Almeida Antonio Carlos
机构信息
Krankenanstalt Rudolfstiftung, Vienna, Austria.
Disciplina de Neurociência, Escola Paulista de Medicina/Universidade Federal de São Paulo/(EPM/UNIFESP), São Paulo, Brazil.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2018 May 29;8:568. doi: 10.7916/D8795MXR. eCollection 2018.
Abstract
In Response To: Giron C, Roze E, Degos, B, Méneret A, Jardel C, Lannuzel A, et al. Adult-onset generalized dystonia as the main manifestation of MEGDEL syndrome. Tremor Other Hyperkinet Mov. 2018; 8. doi: 10.7916/D8VM5VBQ.
摘要
回应
吉龙C、罗兹E、德戈斯B、梅内雷A、雅德尔C、兰努泽尔A等人。成人起病的全身性肌张力障碍作为MEGDEL综合征的主要表现。震颤与其他运动过度性疾病。2018年；8。doi:10.7916/D8VM5VBQ。
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本文引用的文献
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Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.以成人起病的全身性肌张力障碍为主要表现的MEGDEL综合征
Tremor Other Hyperkinet Mov (N Y). 2018 Apr 18;8:554. doi: 10.7916/D8VM5VBQ. eCollection 2018.
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Novel SERAC1 mutations in a Chinese patient presenting with parkinsonism and dystonia.一名表现为帕金森症和肌张力障碍的中国患者中的新型SERAC1突变
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SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.SERAC1 缺乏导致复杂 HSP：来自一个大家族中新型剪接突变的证据。
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