Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
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DOI：
10.1007/s00439-004-1218-3
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发表时间：
2005-02-01
期刊：
影响因子：
5.3
通讯作者：
Dai, HP
中科院分区：
文献类型：
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作者：
Tang, BS;Zhao, GH;Dai, HP
夏科-玛丽-图斯(Charcot-Marie-Tooth，CMT)病是最常见的遗传性运动和感觉神经病。我们已经描述了一个中国人CMT大家系，并将其基因座(CMT2L；OMIM 608673)定位在染色体12q24上。在此，我们报道了一种新的小热休克蛋白22-kDa蛋白8(由HSPB8编码)的c.423G->；T(Lys141Asn)错义突变，该突变也与远端遗传性运动神经病II型(DHMN)有关。在另外114个CMT家系中没有发现致病突变。
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.