Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.
作者信息
Fujioka Shinsuke, Strongosky Audrey J, Hassan Anhar, Rademakers Rosa, Dickson Dennis W, Wszolek Zbigniew K
机构信息
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA; Department of Neurology, Fukuoka University, Fukuoka, Japan.
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA.
出版信息
Parkinsonism Relat Disord. 2015 Mar;21(3):329-31. doi: 10.1016/j.parkreldis.2014.12.024. Epub 2015 Jan 8.
Abstract
摘要
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本文引用的文献
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SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.伴有肌张力障碍的家族性基底节钙化中溶质载体家族20成员2（SLC20A2）和THAP结构域蛋白1（THAP1）缺失
Neurogenetics. 2014 Mar;15(1):23-30. doi: 10.1007/s10048-013-0378-5. Epub 2013 Oct 18.
2
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.SLC20A2 基因突变与家族性特发性基底节钙化和磷稳态相关。
Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.
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Dystonia: phenomenology.肌张力障碍：现象学。
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