| Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease |
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| 引用本文： | TANG Beisha,LUO Wei,ZHAO Guohua,XIAO Jianfeng,LI Qi,MA Yanlin,XIA Kun and YANG Qidong(1. Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,China, 2. National Laboratory of Medical Genetics of China,Changsha 410078,China). Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease[J]. 自然科学进展(英文版), 2003, 13(6) |
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| 作者姓名： | TANG Beisha LUO Wei ZHAO Guohua XIAO Jianfeng LI Qi MA Yanlin XIA Kun and YANG Qidong(1. Department of Neurology Xiangya Hospital Central South University Changsha 410008 China 2. National Laboratory of Medical Genetics of China Changsha 410078 China) |
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| 作者单位： | 1. Department of Neurology，Xiangya Hospital，Central South University，Changsha 410008，China; 2. National Laboratory of Medical Genetics of China，Changsha 410078，China |
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| 基金项目： | the National Natural Science Foundation of China (Grant No.39900047) and the National 863 High-Tech Project (2001AA227011) |
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| 摘 要： | The form of Charcot-Marie-Tooth (CMT) neuropathy that maps to Xql3 is X-linked dominant, or X-linked intermediate. Heterozygous females are more mildly affected than hemizygous males. It has been known that this type of CMT is caused by mutations of connexin32 (Cx32) gene. A typical X-linked recessive Charcot-Marie-Tooth Chinese family was analyzed with single strand conformation polymorphism method. A Cx32 gene point mutation, ArglSGln, in exon 2 was identified in all affected family members, suggesting that this mutation is responsible for the CMT incidence of this family.
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Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease |
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| Tang Beisha,LUO Wei,Zhao Guohua,XIAO Jianfeng,LI Qi,MA Yanlin,XIA Kun,Yang Qidong. Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease[J]. Progress in Natural Science, 2003, 13(6) |
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| Authors: | Tang Beisha LUO Wei Zhao Guohua XIAO Jianfeng LI Qi MA Yanlin XIA Kun Yang Qidong |
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| Abstract: | The form of Charcot-Marie-Tooth (CMT) neuropathy that maps to Xql3 is X-linked dominant, or X-linked intermediate. Heterozygous females are more mildly affected than hemizygous males. It has been known that this type of CMT is caused by mutations of connexin32 (Cx32) gene. A typical X-linked recessive Charcot-Marie-Tooth Chinese family was analyzed with single strand conformation polymorphism method. A Cx32 gene point mutation, ArglSGln, in exon 2 was identified in all affected family members, suggesting that this mutation is responsible for the CMT incidence of this family. |
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| Keywords: | X-linked recessive Charcot-Marie-Tooth disease connexin32 (Cx32) gene mutation. |
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