title: Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
abstract: Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot-Marie-Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation. Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype.
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy, claudia.stancanelli@yahoo.it.
authors.forename: Claudia
authors.initials: C
authors.lastname: Stancanelli
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: Moreno
authors.initials: M
authors.lastname: Ferrarini
authors.forename: Tiziana
authors.initials: T
authors.lastname: Cavallaro
authors.forename: Federica
authors.initials: F
authors.lastname: Taioli
authors.forename: Rita
authors.initials: R
authors.lastname: Di Leo
authors.forename: Massimo
authors.initials: M
authors.lastname: Russo
authors.forename: Luca
authors.initials: L
authors.lastname: Gentile
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.forename: Anna
authors.initials: A
authors.lastname: Mazzeo
mesh_terms: D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D055551:HSP27 Heat-Shock Proteins / Q000235:genetics*; D006360:Heat-Shock Proteins; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D055551:HSP27 Heat-Shock Proteins; C057725:HSPB1 protein, human; D006360:Heat-Shock Proteins; D018832:Molecular Chaperones