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Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies
Author(s) -
Meijerink Peter H. S.,
Zorn Ina,
Baas Frank,
de Visser Marianne,
Bolhuis Pieter A.,
Hoogendijk Jessica E.,
Veldman Henk,
GabreëlsFesten Anneke A. W. M.
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400418
Subject(s) - myelin , mutation , peripheral myelin protein 22 , genetics , gene , polyneuropathy , pathology , biology , medicine , phenotype , neuroscience , central nervous system
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.