title: 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.
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Luigetti
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: F
authors.initials: F
authors.lastname: Madia
authors.forename: M
authors.initials: M
authors.lastname: Ferrarini
authors.forename: A
authors.initials: A
authors.lastname: Conte
authors.forename: A
authors.initials: A
authors.lastname: Del Grande
authors.forename: G
authors.initials: G
authors.lastname: Tasca
authors.forename: P A
authors.initials: PA
authors.lastname: Tonali
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000595:Amino Acid Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004247:DNA / Q000235:genetics; D005260:Female; D055551:HSP27 Heat-Shock Proteins / Q000235:genetics* / Q000502:physiology; D006360:Heat-Shock Proteins; D006801:Humans; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009431:Neural Conduction; D009460:Neurologic Examination; D010641:Phenotype; D055815:Young Adult
chemical_list: D055551:HSP27 Heat-Shock Proteins; C057725:HSPB1 protein, human; D006360:Heat-Shock Proteins; D018832:Molecular Chaperones; D004247:DNA