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学科主题: 临床医学
题名:
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
作者: Chen, Bin; Zheng, Riliang; Luan, Xinghua; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun1
关键词: BSCL2 ; dHMN-II ; dHMN-V ; hereditary motor neuropathy ; sensory nerve
刊名: NEUROPATHOLOGY
发表日期: 2009-10-01
DOI: 10.1111/j.1440-1789.2009.01011.x
卷: 29, 期:5, 页:543-547
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]: SILVER-SYNDROME ; HUMAN SEIPIN ; SURAL NERVE ; PROTEIN ; HETEROGENEITY ; MORPHOLOGY ; PHENOTYPE ; FAMILY
英文摘要:

Seipinopathy is an autosomal dominant inherited distal motor neuropathy caused by Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene mutations. We describe a Chinese family with seipinopathy in which nine patients from four successive generations were involved. The onset of age was from 13 to 40 years. Among them six were distal hereditary motor neuropathy type II with predominant weakness of lower extremities, while one of them was accompanied by pyramidal signs. The other three women were distal hereditary motor neuropathy type V with predominant atrophy of hands. Electrophysiological results in one patient demonstrated reduction of amplitude of compound muscle action potentials. Sural nerve biopsy showed loss of large myelinated fibers and fiber regeneration. Gene analysis revealed a heterozygous 263A -> G mutation in BSCL2 gene resulting in amino acid substitutions in N88S. This report suggests that a different type of distal hereditary motor neuropathy could exist within one family carrying N88S mutations. The axonal degeneration of sensory nerves appeared also in the disease.

语种: 英语
WOS记录号: WOS:000270153100004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64377
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: 1.Peking Univ, Dept Neurol, Hosp 1, Beijing 100034, Peoples R China
2.Peking Univ, Neuropathol Lab, Hosp 1, Beijing 100034, Peoples R China

Recommended Citation:
Chen, Bin,Zheng, Riliang,Luan, Xinghua,et al. Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2[J]. NEUROPATHOLOGY,2009,29(5):543-547.
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