title: Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
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.
authors.affiliation: National Laboratory of Medical Genetics of China, Central South University, 410078, Changsha, Hunan, People's Republic of China. bstang7398@yahoo.com.cn
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Fu-feng
authors.initials: FF
authors.lastname: Zhang
authors.forename: Xiao-min
authors.initials: XM
authors.lastname: Liu
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: He-ping
authors.initials: HP
authors.lastname: Dai
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005799:Genes, Dominant; D006360:Heat-Shock Proteins; D006801:Humans; D018832:Molecular Chaperones; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C413214:HSPB8 protein, human; D006360:Heat-Shock Proteins; D018832:Molecular Chaperones; D017346:Protein Serine-Threonine Kinases