Tang Bei-sha, Zhao Guo-hua, Luo Wei, Xia Kun, Cai Fang, Pan Qian, Zhang Ru-xu, Zhang Fu-feng, Liu Xiao-min, Chen Biao, Zhang Cheng, Shen Lu, Jiang Hong, Long Zhi-gao, Dai He-ping
National Laboratory of Medical Genetics of China, Central South University, 410078, Changsha, Hunan, People's Republic of China.
Hum Genet. 2005 Feb;116(3):222-4. doi: 10.1007/s00439-004-1218-3. Epub 2004 Nov 23.
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.
夏科-马里-图思（CMT）病是最常见的遗传性运动和感觉神经病变。我们之前描述过一个庞大的中国CMT家系，并将该疾病相关基因座（CMT2L；OMIM 608673）定位于12号染色体长臂24区。在此，我们报告小热休克蛋白22 kDa蛋白8（由HSPB8编码）发生了一个新的c.423G→T（Lys141Asn）错义突变，该突变也与II型远端遗传性运动神经病相关。在另外114个CMT家系中未发现致病突变。
