title: Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing.
authors.affiliation: Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Gagliardi
authors.affiliation: Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Ricca
authors.affiliation: Department of Biotechnologies, University of Verona, Verona, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ferrarini
authors.affiliation: Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Valente
authors.affiliation: Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
authors.forename: G S
authors.initials: GS
authors.lastname: Grieco
authors.affiliation: Consultant Neurologist, National Neurological Institute C. Mondino, Pavia, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Piccolo
authors.affiliation: Neurophysiology Unit, IRCCS National Neurological Institute "C. Mondino", Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Alfonsi
authors.affiliation: Department of Biotechnologies, University of Verona, Verona, Italy.|Personal Genomics Srl, Verona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Delledonne
authors.affiliation: Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Cereda
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D053556:Keratin-1 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: C491616:KRT1 protein, human; D053556:Keratin-1; C560547:MPZ protein, human; D018993:Myelin P0 Protein