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

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.

journal_name

J Neurol Sci

authors

Luigetti M,Fabrizi GM,Madia F,Ferrarini M,Conte A,Del Grande A,Tasca G,Tonali PA,Sabatelli M

doi

10.1016/j.jns.2010.09.008

subject

Has Abstract

pub_date

2010-11-15 00:00:00

pages

114-7

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(10)00444-2

journal_volume

298

pub_type

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