Ontology highlight
ABSTRACT:
SUBMITTER: Laura M
PROVIDER: S-EPMC2117588 | biostudies-literature | 2007 Nov
REPOSITORIES: biostudies-literature
Laurà Matilde M Milani Micaela M Morbin Michela M Moggio Maurizio M Ripolone Michela M Jann Stefano S Scaioli Vidmer V Taroni Franco F Pareyson Davide D
Journal of neurology, neurosurgery, and psychiatry 20071101 11
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMT) type 1B, Déjèrine-Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMT (CMT2) associated with MPZ mutations has been described. We report six patients (one sporadic case and five subjects from two appare ...[more]