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Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L |
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| Authors: | Bei-sha Tang Guo-hua Zhao Wei Luo Kun Xia Fang Cai Qian Pan Ru-xu Zhang Fu-feng Zhang Xiao-min Liu Biao Chen Cheng Zhang Lu Shen Hong Jiang Zhi-gao Long He-ping Dai |
| Institution: | (1) National Laboratory of Medical Genetics of China, Central South University, 410078 Changsha, Hunan, People s Republic of China;(2) Department of Neurology, Xiangya Hospital, Central South University, 410008 Changsha, Hunan, Peoples Republic of China;(3) Department of Neurology, First Affiliated Hospital, Medical College of Zhejiang University, 310003 Hangzhou, Zhejiang, Peoples Republic of China;(4) Department of Neurology, Xuanwu Hospital, Capital University of Medical Science, 100053 Beijing, Peoples Republic of China;(5) Department of Neurology, First Affiliated Hospital, Medical College of Sun Yat-sen University, 510800 Guangzhou, Guangdong, Peoples Republic of China |
| Abstract: | Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families. |
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