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学科主题临床医学
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
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
2009-10-01
DOI10.1111/j.1440-1789.2009.01011.x
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
Cited Times:6[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64377
Collection北京大学第一临床医学院_神经内科
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
GB/T 7714
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.
APA Chen, Bin,Zheng, Riliang,Luan, Xinghua,Zhang, Wei,Wang, Zhaoxia,&Yuan, Yun.(2009).Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.NEUROPATHOLOGY,29(5),543-547.
MLA Chen, Bin,et al."Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2".NEUROPATHOLOGY 29.5(2009):543-547.
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