机构：[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, People’s Republic of China[3]Department of Neurology, First Affiliated Hospital, Medical College of Zhejiang University, 310003 Hangzhou, Zhejiang, People’s Republic of China[4]Department of Neurology, Xuanwu Hospital, Capital University of Medical Science, 100053 Beijing, People’s Republic of China神经内科首都医科大学宣武医院[5]Department of Neurology, First Affiliated Hospital, Medical College of Sun Yat-sen University, 510800 Guangzhou, Guangdong, People’s Republic of China
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.
基金：
the National 863 High-tech Project (2001AA227011 and 2004AA227040) and National Natural Science Foundation of China (30300199, 30300200 and 30370515).
第一作者机构：[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, People’s Republic of China
通讯作者：
通讯机构：[1]National Laboratory of Medical Genetics of China, Central South University, 410078 Changsha, Hunan, People’s Republic of China
推荐引用方式(GB/T 7714)：
Bei-sha Tang,Guo-hua Zhao,Wei Luo,et al.Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L[J].HUMAN GENETICS.2005,116(3):222-224.doi:10.1007/s00439-004-1218-3.
APA：
Bei-sha Tang,Guo-hua Zhao,Wei Luo,Kun Xia,Fang Cai...&He-ping Dai.(2005).Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.HUMAN GENETICS,116,(3)
MLA：
Bei-sha Tang,et al."Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L".HUMAN GENETICS 116..3(2005):222-224
