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Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family 被引量:3
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作者 A-ping Sun Lu Tang +3 位作者 Qin Liao Hui Zhang Ying-shuang Zhang Jun Zhang 《Neural Regeneration Research》 SCIE CAS CSCD 2015年第10期1696-1699,共4页
Charcot-Marie-Tooth disease type 1A(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 melli... Charcot-Marie-Tooth disease type 1A(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 CMT1 A 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 CMT1 A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1 A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases. 展开更多
关键词 nerve regeneration PMP22 duplication demyelinating degeneration hereditary disease phenotype axonal loss electrophysiology concentric structure multiplex ligation-dependent probe amplification neural regeneration
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