Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B

Citation
N. Tachi et al., Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B, PED NEUROL, 24(1), 2001, pp. 33-35
Citations number
18
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
PEDIATRIC NEUROLOGY
ISSN journal
0887-8994 → ACNP
Volume
24
Issue
1
Year of publication
2001
Pages
33 - 35
Database
ISI
SICI code
0887-8994(200101)24:1<33:EOPMPZ>2.0.ZU;2-V
Abstract
A Charcot-Marie-Tooth disease 1B (CMT1B) family with a mutation of the Po g ene is presented, A to G substitution of nucleotide 389 in exon 3 resulted in Lys 131 Arg substitution. Immunostaining for Po in biopsied sural nerve from one family member with CMT1B was expressed in a small number of myelin ated fibers, Immunoblot analysis for Po revealed that it was of normal mole cular weight (29 kDa) although significantly reduced in amount. This hetero zygous mutation could lead to a reduction in the total amount of normal pro tein in peripheral nerves through a mechanism of loss of function. (C) 2001 by Elsevier Science Inc. All rights reserved.