Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
- 23 November 2004
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 116 (3) , 222-224
- https://doi.org/10.1007/s00439-004-1218-3
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.Keywords
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