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Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

Archives of neurology - 1 Aug 2005

Tang Beisha, Liu Xiaomin, Zhao Guohua, Luo Wei, Xia Kun, Pan Qian, Cai Fang, Hu Zhengmao, Zhang Cheng, Chen Biao, Zhang Fufeng, Shen Lu, Zhang Ruxu, Jiang Hong

Abstract excerpt

BACKGROUND: 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. OBJECTIVE: To investigate the frequency and phenotypic features of...

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PMID: 16087758
DOI: 10.1001/archneur.62.8.1201

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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