Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies
- 8 October 1996
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 40 (4) , 672-675
- https://doi.org/10.1002/ana.410400418
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 Arg‐69Cys. 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.Keywords
This publication has 20 references indexed in Scilit:
- Formation of a Disulfide Bond in the Immunoglobulin Domain of the Myelin P0 Protein Is Essential for Its AdhesionJournal of Neurochemistry, 2002
- Biology and Genetics of Hereditary Motor and Sensory NeuropathiesAnnual Review of Neuroscience, 1995
- Mutations in demyelinating peripheral neuropathies support molecular model of myelin PO‐glycoprotein extracellular domainJournal of Neuroscience Research, 1994
- A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsiesNature Genetics, 1994
- The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23Human Molecular Genetics, 1993
- Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1BNature Genetics, 1993
- Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 geneNature Genetics, 1993
- Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1Biochemical and Biophysical Research Communications, 1993
- Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axonsCell, 1992
- Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelinBiochemical and Biophysical Research Communications, 1991