We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
- Authors
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
- 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 byHSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.
- Subjects
GENETIC disorders; SPINAL muscular atrophy; NEUROPATHY; ALTERNATIVE medicine; CELL nuclei; BIOLOGICAL adaptation
- Publication
Human Genetics, 2005, Vol 116, Issue 3, p222
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-004-1218-3