title: Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
abstract: Mutations in the myelin protein zero gene (MPZ) are associated with certain demyelinating neuropathies, and in particular with Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome, and congenital hypomyelination. MPZ mutations affecting the protein's transmembrane domain are generally associated with more severe phenotypes. We describe a family with mild CMT1B associated with a transmembrane MPZ mutation. Sequence analysis identified a G-to-C transversion at nucleotide 1064, predicting a glycine-to-arginine substitution in codon 163 (G163R) of MPZ. This report furthers the understanding of the clinical and electrophysiological manifestations of MPZ mutations.
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. eggers.scott@mayo.edu
authors.forename: Scott D Z
authors.initials: SD
authors.lastname: Eggers
authors.forename: Sanjay C
authors.initials: SC
authors.lastname: Keswani
authors.forename: Giorgia
authors.initials: G
authors.lastname: Melli
authors.forename: David R
authors.initials: DR
authors.lastname: Cornblath
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary
chemical_list: D008565:Membrane Proteins; D018993:Myelin P0 Protein