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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2005-8-9
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pubmed:abstractText |
Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0003-9942
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pubmed:author |
pubmed-author:CaiFangF,
pubmed-author:ChenBiaoB,
pubmed-author:HongJiangJ,
pubmed-author:HuZhengmaoZ,
pubmed-author:LiuXiaominX,
pubmed-author:LuoWeiW,
pubmed-author:PanQianQ,
pubmed-author:SertCC,
pubmed-author:ShiS MSM,
pubmed-author:TangBeishaB,
pubmed-author:ZhangChengC,
pubmed-author:ZhangFufengF,
pubmed-author:ZhangRuxuR,
pubmed-author:ZhaoGuohuaG
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pubmed:issnType |
Print
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1201-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16087758-Adult,
pubmed-meshheading:16087758-Age of Onset,
pubmed-meshheading:16087758-Charcot-Marie-Tooth Disease,
pubmed-meshheading:16087758-China,
pubmed-meshheading:16087758-DNA Mutational Analysis,
pubmed-meshheading:16087758-Female,
pubmed-meshheading:16087758-Founder Effect,
pubmed-meshheading:16087758-Genetic Testing,
pubmed-meshheading:16087758-HSP27 Heat-Shock Proteins,
pubmed-meshheading:16087758-Haplotypes,
pubmed-meshheading:16087758-Heat-Shock Proteins,
pubmed-meshheading:16087758-Humans,
pubmed-meshheading:16087758-Male,
pubmed-meshheading:16087758-Middle Aged,
pubmed-meshheading:16087758-Mutation, Missense,
pubmed-meshheading:16087758-Neoplasm Proteins,
pubmed-meshheading:16087758-Neural Conduction,
pubmed-meshheading:16087758-Pedigree,
pubmed-meshheading:16087758-Peripheral Nerves,
pubmed-meshheading:16087758-Phenotype
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pubmed:year |
2005
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pubmed:articleTitle |
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
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pubmed:affiliation |
Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China. bstang7398@yahoo.com.cn
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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