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

Mario Sabatelli, Marco Luigetti, Francesca Madia, Amelia Conte, Alessandra Del Grande, Giorgio Tasca, Pietro Attilio Tonali, G. M. Fabrizi, M. Ferrarini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

36 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)114-117
Numero di pagine4
RivistaJournal of the Neurological Sciences
Volume2010
DOI
Stato di pubblicazionePubblicato - 2010

Keywords

  • CMT
  • HSPB1
  • dHMN

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