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Hum Genet. 2005 Feb;116(3):222-4. Epub 2004 Nov 23.

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

Author information

1
National Laboratory of Medical Genetics of China, Central South University, 410078, Changsha, Hunan, People's Republic of China. bstang7398@yahoo.com.cn

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.

PMID:
15565283
DOI:
10.1007/s00439-004-1218-3
[Indexed for MEDLINE]

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