title: A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
abstract: Charcot-Marie-Tooth type 1B disease is a demyelinating neuropathy caused by mutations in the Myelin Protein Zero gene. It is inherited in an autosomal dominant fashion. So far only a few patients with a focally folded myelin phenotype on nerve biopsy have been shown to have mutations in the Myelin Protein Zero gene. In this report we describe a Polish patient with Charcot-Marie-Tooth type 1B disease. Sural nerve biopsy demonstrated focally folded myelin. Molecular genetic analysis of the coding region of the Myelin Protein Zero gene revealed a novel mutation, Thr65Ala, in exon 2 of the Myelin Protein Zero gene.
authors.affiliation: Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Banacha 1a, Warsaw 02-098, Poland. andko@cmdik.pan.pl
authors.forename: A
authors.initials: A
authors.lastname: Kochanski
authors.forename: H
authors.initials: H
authors.lastname: Drac
authors.forename: D
authors.initials: D
authors.lastname: Kabzińska
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006226:Hand Deformities / Q000209:etiology; D006801:Humans; D008854:Microscopy, Electron / Q000379:methods; D009133:Muscular Atrophy / Q000209:etiology; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D009186:Myelin Sheath / Q000235:genetics / Q000473:pathology* / Q000648:ultrastructure; D017510:Protein Folding; D013912:Threonine / Q000235:genetics
chemical_list: D018993:Myelin P0 Protein; D013912:Threonine; D000409:Alanine