Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation

Scott D.Z. Eggers, Sanjay C. Keswani, Giorgia Melli, David R. Cornblath

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)867-869
Number of pages3
JournalMuscle and Nerve
Volume29
Issue number6
DOIs
StatePublished - Jun 1 2004

Keywords

  • Charcot-Marie-Tooth disease type 1B
  • Genetic neuropathy
  • Myelin protein zero
  • Point mutation

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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