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.
Keywords
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Article info
Publication history
Published online: September 28, 2010
Accepted:
September 8,
2010
Received in revised form:
September 6,
2010
Received:
June 20,
2010
Identification
Copyright
© 2010 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
