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. 2005 Feb;116(3):222-4.
doi: 10.1007/s00439-004-1218-3. Epub 2004 Nov 23.

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Bei-sha Tang  1 , 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
Affiliations

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Bei-sha Tang et al. Hum Genet. 2005 Feb.

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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References

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