Title
Clinical phenotypes of different **MPZ** <tex>$(P_{0})$</tex> mutations may include Charcot-Marie-Tooth type 1B, Déjérine-Sottas and congenital hypomyelination Clinical phenotypes of different **MPZ** <tex>$(P_{0})$</tex> mutations may include Charcot-Marie-Tooth type 1B, Déjérine-Sottas and congenital hypomyelination
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Kraainem ,
Source (journal)
Neuron. - Kraainem, 1996, currens
Volume/pages
17(1996) :3 , p. 451-460
ISSN
1372-4185
ISI
A1996VJ44000011
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and congenital hypomyelination (CH). The clinical classification of these neuropathies into discrete categories can sometimes be difficult because there can be both clinical and pathologic variation and overlap between these disorders. We have identified five novel mutations in the myelin protein zero (MPZ) gene, encoding the major structural protein (P-0) of peripheral nerve myelin, in patients with either CMT1B, DSS, or CH. This finding suggests that these disorders may not be distinct pathophysiologic entities, but rather represent a spectrum of related ''myelinopathies'' due to an underlying defect in myelination. Furthermore, we hypothesize the differences in clinical severity seen with mutations in MPZ are related to the type of mutation and its subsequent effect on protein function (i.e., loss of function versus dominant negative).
E-info
https://repository.uantwerpen.be/docman/iruaauth/406114/0422693.pdf
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