Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.
第一作者:
Shinsuke,Fujioka
第一单位:
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA; Department of Neurology, Fukuoka University, Fukuoka, Japan.
作者:
主题词
老年人, 80以上(Aged, 80 and over);凋亡调节蛋白质类(Apoptosis Regulatory Proteins);DNA结合蛋白质类(DNA-Binding Proteins);诊断, 鉴别(Diagnosis, Differential);张力障碍(Dystonic Disorders);面部(Face);基因缺失(Gene Deletion);人类(Humans);男(雄)性(Male);下颌骨(Mandible);核蛋白质类(Nuclear Proteins);钠-磷协同转运蛋白质类, Ⅲ型(Sodium-Phosphate Cotransporter Proteins, Type III);舌(Tongue)
DOI
10.1016/j.parkreldis.2014.12.024
PMID
25609077
发布时间
2018-11-13
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