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学科主题: 临床医学
题名:
Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses
作者: Lv, He; Wang, Lu; Li, Wurong; Qiao, Xiaohui; Li, Yuexing; Wang, Zhaoxia; Yuan, Yun
关键词: mitofusin 2(MFN2) ; Charcot-Marie-Tooth 2A2(CMT2A2) ; optic atrophy ; neuropathology ; gene mutation
刊名: CLINICAL NEUROPATHOLOGY
发表日期: 2013
DOI: 10.5414/NP300464
卷: 32, 期:1, 页:16-23
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Pathology
研究领域[WOS]: Neurosciences & Neurology ; Pathology
关键词[WOS]: MARIE-TOOTH DISEASE ; MFN2 MUTATIONS ; NEUROPATHY ; TYPE-2 ; FAMILIES ; FEATURES
英文摘要:

Charcot-Marie-Tooth disease Type 2A2 (CMT2A2), caused by mitofusin 2 (MFN2) genes, has been clinically classified into two types: severe early-onset and mild benign. Here we reported 3 early onset patients with different progressive courses. The 3 patients had mutations R94W, R364W and a novel W740R in the MFN2 gene. Two patients presented with progressive distal limb muscle weakness and wasting from the ages of 5 and 6 years, respectively. The disease developed slowly, with loss of ambulation after 35 years of age. The third patient presented with similar symptoms afterbirth, and has never been able to walk independently. Sural nerve biopsies revealed severe axonal neuropathy with mitochondrial aggregation in axons. Our data confirmed that early-onset CMT2A2 can present with different courses in Chinese patients. The novel mutation in MFN2 found in this study broadens the genotypic spectrum associated with MFN2 related CMT.

语种: 英语
WOS记录号: WOS:000314623500004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59217
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, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China

Recommended Citation:
Lv, He,Wang, Lu,Li, Wurong,et al. Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses[J]. CLINICAL NEUROPATHOLOGY,2013,32(1):16-23.
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