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Clinical and genetic description of a family with Charcot–Marie–Tooth disease type 1B from a transmembrane MPZ mutation
Author(s) -
Eggers Scott D. Z.,
Keswani Sanjay C.,
Melli Giorgia,
Cornblath David R.
Publication year - 2004
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20034
Subject(s) - genetics , mutation , transmembrane domain , transversion , transmembrane protein , peripheral myelin protein 22 , biology , phenotype , tooth disease , gene , receptor
Mutations in the myelin protein zero gene ( MPZ ) are associated with certain demyelinating neuropathies, and in particular with Charcot–Marie–Tooth disease type 1B (CMT1B), Dejerine–Sottas syndrome, and congenital hypomyelination. MPZ mutations affecting the protein's transmembrane domain are generally associated with more severe phenotypes. We describe a family with mild CMT1B associated with a transmembrane MPZ mutation. Sequence analysis identified a G‐to‐C transversion at nucleotide 1064, predicting a glycine‐to‐arginine substitution in codon 163 (G163R) of MPZ . This report furthers the understanding of the clinical and electrophysiological manifestations of MPZ mutations. Muscle Nerve 29: 867–869, 2004