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学科主题: 临床医学
题名:
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A
作者: Luan, Xinghua; Chen, Bin; Liu, Yang; Zheng, Riliang; Zhang, Wei; Yuan, Yun
关键词: paralysis periodica paramyotonica ; SCN4A ; tubular aggregates
刊名: NEUROPATHOLOGY
发表日期: 2009-10-01
DOI: 10.1111/j.1440-1789.2008.00985.x
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65965
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: Peking Univ, Dept Neurol, Hosp 1, Beijing 100034, Peoples R China

Recommended Citation:
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.
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