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J Neurol Sci. 2010 Nov 15;298(1-2):114-7. doi: 10.1016/j.jns.2010.09.008. Epub 2010 Sep 25.

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

Author information

1
Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

Abstract

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.

PMID:
20870250
DOI:
10.1016/j.jns.2010.09.008
[Indexed for MEDLINE]

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