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Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family
Sun, A-ping1; Tang, Lu1; Liao, Qin2; Zhang, Hui1; Zhang, Ying-shuang1; Zhang, Jun1
关键词nerve regeneration PMP22 duplication demyelinating degeneration hereditary disease phenotype axonal loss electrophysiology concentric structure multiplex ligation-dependent probe amplification neural regeneration
刊名Neural Regeneration Research
2015-10-01
DOI10.4103/1673-5374.167771
10期:10页:1696-1699
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Cell Biology ; Neurosciences
研究领域[WOS]Cell Biology ; Neurosciences & Neurology
关键词[WOS]DISEASE TYPE 1A ; HEREDITARY NEUROPATHY ; IDENTICAL-TWINS ; DUPLICATION ; DYSTROPHY ; MUTATION ; CMT1A ; MOTOR
英文摘要

Charcot-Marie-Tooth disease type lA (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

语种英语
WOS记录号WOS:000364260700042
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被引频次:1[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/400002259/67474
专题北京大学第三临床医学院_神经内科
作者单位1.Peking Univ, Hosp 3, Dept Neurol, Beijing 100871, Peoples R China
2.Beijing Jishuitan Hosp, Dept Neurol, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Sun, A-ping,Tang, Lu,Liao, Qin,et al. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family[J]. Neural Regeneration Research,2015,10(10):1696-1699.
APA Sun, A-ping,Tang, Lu,Liao, Qin,Zhang, Hui,Zhang, Ying-shuang,&Zhang, Jun.(2015).Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family.Neural Regeneration Research,10(10),1696-1699.
MLA Sun, A-ping,et al."Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family".Neural Regeneration Research 10.10(2015):1696-1699.
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