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 Scijournal_title
Journal of the neurological sciencesauthors
Luigetti M,Fabrizi GM,Madia F,Ferrarini M,Conte A,Del Grande A,Tasca G,Tonali PA,Sabatelli Mdoi
10.1016/j.jns.2010.09.008subject
Has Abstractpub_date
2010-11-15 00:00:00pages
114-7issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(10)00444-2journal_volume
298pub_type
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journal_title:Journal of the neurological sciences
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