title: A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
abstract: We have investigated a 34-year-old female who had mild clinical and electrophysiological features of demyelinating peripheral neuropathy. She presented a novel frameshift mutation (V160fsX3) in the exon 4 of the Myelin Protein Zero (MPZ) gene. Clinical and genetic studies performed on her family revealed the same mutation in her oligosymptomatic mother and sister. Our report expands the number of MPZ mutations and indicates that mutations in exon 4 may cause a mild Charcot-Marie-Tooth type 1B phenotype.
authors.affiliation: Department of Neuroscience, Neurological Clinic, Pisa, Italy.
authors.forename: Selina
authors.initials: S
authors.lastname: Piazza
authors.forename: Fulvia
authors.initials: F
authors.lastname: Baldinotti
authors.forename: Antonella
authors.initials: A
authors.lastname: Fogli
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Conidi
authors.forename: Angela
authors.initials: A
authors.lastname: Michelucci
authors.forename: Elena Caldarazzo
authors.initials: EC
authors.lastname: Ienco
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index
chemical_list: D018993:Myelin P0 Protein