Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies
✍ Scribed by Peter H. S. Meijerink; Ina Zorn; Frank Baas; Marianne de Visser; Dr Pieter A. Bolhuis; Jessica E. Hoogendijk; Henk Veldman; Anneke A. W. M. Gabreëls-Festen
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 440 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
✦ Synopsis
Mutations in the major peripheral myelin protein zero (PO) gene on chromosome lq21-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 Atg-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 PO in the compaction of myelin.