期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 298, 期 1-2, 页码 114-117出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2010.09.008
关键词
HSPB1; HSP27; CMT; dHMN; Sural nerve biopsy; Electromyography
Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural nerve biopsy showed a mild reduction of myelinated fibre density. All these findings suggested a CMT2/dHMN phenotype. (C) 2010 Elsevier B.V. All rights reserved.
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