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学科主题临床医学
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A
Luan, Xinghua; Chen, Bin; Liu, Yang; Zheng, Riliang; Zhang, Wei; Yuan, Yun
关键词paralysis periodica paramyotonica SCN4A tubular aggregates
刊名NEUROPATHOLOGY
2009-10-01
DOI10.1111/j.1440-1789.2008.00985.x
29期:5页:579-584
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences ; Pathology
研究领域[WOS]Neurosciences & Neurology ; Pathology
关键词[WOS]ENDOPLASMIC-RETICULUM STRESS ; SODIUM-CHANNEL GENE ; DOMINANTLY INHERITED MYOPATHY ; SKELETAL-MUSCLE ; CONGENITA ; EXPRESSION ; NEURODEGENERATION ; ORIGIN ; CRAMP
英文摘要

T704M mutations in SCN4A have recently been identified in families with paralysis periodica paramyotonica. Here we report the pathological features of intracellular tubular aggregates (TAs) on muscle biopsy in one family with T704M mutations of SCN4A. Tau, dysferlin and ubiquitin were all expressed in areas of tubule accumulation. These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica. Some proteins can mislocate in the TAs.

语种英语
WOS记录号WOS:000270153100009
引用统计
被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65965
专题北京大学第一临床医学院_神经内科
作者单位Peking Univ, Dept Neurol, Hosp 1, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Luan, Xinghua,Chen, Bin,Liu, Yang,et al. Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A[J]. NEUROPATHOLOGY,2009,29(5):579-584.
APA Luan, Xinghua,Chen, Bin,Liu, Yang,Zheng, Riliang,Zhang, Wei,&Yuan, Yun.(2009).Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.NEUROPATHOLOGY,29(5),579-584.
MLA Luan, Xinghua,et al."Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A".NEUROPATHOLOGY 29.5(2009):579-584.
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