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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Acknowledgements
We thank the participating families for their cooperation throughout the investigation. This study was supported by grants from the National 863 High-tech Project (2001AA227011 and 2004AA227040) and National Natural Science Foundation of China (30300199, 30300200 and 30370515). We also thank Dr. Zheng-mao Hu for skillful technical assistance and critical reading of this manuscript.
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Tang, Bs., Zhao, Gh., Luo, W. et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 116, 222–224 (2005). https://doi.org/10.1007/s00439-004-1218-3
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DOI: https://doi.org/10.1007/s00439-004-1218-3