Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

A. Simonati, G. M. Fabrizi, A. Pasquinelli, F. Taioli, T. Cavallaro, M. Morbin, G. Marcon, M. Papini, N. Rizzuto

Research output: Contribution to journalArticle

Abstract

We describe a patient with congenital hypomyelination neuropathy. The pathological and morphometrical findings in the sural nerve biopsy were consistent with a defect of myelin formation and maintenance. Direct sequence analysis of the genomic regions coding the peripheral myelin proteins P0 and PMP22 disclosed a heterozygous missense point mutation that leads to a Ser72Leu substitution in the second transmembrane of PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-Sottas syndrome and including congenital hypomyelination neuropathy. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)257-261
Number of pages5
JournalNeuromuscular Disorders
Volume9
Issue number4
DOIs
Publication statusPublished - Jun 1 1999

Keywords

  • Congenital hypomyelination neuropathy
  • Dejerine-Sottas disease
  • Hypomyelination
  • PMP22

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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