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学科主题: 临床医学
题名:
Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family
作者: 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
发表日期: 2015-10-01
DOI: 10.4103/1673-5374.167771
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67474
Appears in Collections:北京大学第三临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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