title: Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies.
abstract: Mutations in the major peripheral myelin protein zero (P0) gene on chromosome 1q21-q23 have been found with the hereditary demyelinating polyneuropathy Charcot-Marie-Tooth type 1B. Here, we describe 2 patients with distinct neurological characteristics, carrying different substitutions at the same codon--Arg69His and Arg69Cys. The patients were heterozygous for the mutation, which in both appeared to be de novo. Histological examination of sural nerve biopsy specimens revealed defective myelin as well as marked differences, confirming the importance of P0 in the compaction of myelin.
authors.affiliation: Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands.
authors.forename: P H
authors.initials: PH
authors.lastname: Meijerink
authors.forename: J E
authors.initials: JE
authors.lastname: Hoogendijk
authors.forename: A A
authors.initials: AA
authors.lastname: Gabreëls-Festen
authors.forename: I
authors.initials: I
authors.lastname: Zorn
authors.forename: H
authors.initials: H
authors.lastname: Veldman
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D003062:Codon / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008854:Microscopy, Electron; D018993:Myelin P0 Protein / Q000648:ultrastructure*; D009186:Myelin Sheath / Q000648:ultrastructure; D017354:Point Mutation; D013497:Sural Nerve / Q000648:ultrastructure
chemical_list: D003062:Codon; D018993:Myelin P0 Protein