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Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses
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
2013
DOI10.5414/NP300464
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
引用统计
被引频次:7[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/400002259/59217
专题北京大学第一临床医学院_神经内科
作者单位Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
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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.
APA Lv, He.,Wang, Lu.,Li, Wurong.,Qiao, Xiaohui.,Li, Yuexing.,...&Yuan, Yun.(2013).Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses.CLINICAL NEUROPATHOLOGY,32(1),16-23.
MLA Lv, He,et al."Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses".CLINICAL NEUROPATHOLOGY 32.1(2013):16-23.
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