Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

J Peripher Nerv Syst. 2012 Jun;17(2):223-5. doi: 10.1111/j.1529-8027.2012.00402.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 3 / genetics*
  • Female
  • Gene Deletion
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology*
  • Humans
  • Myelin Proteins / genetics*
  • Point Mutation*
  • Respiratory Insufficiency / genetics*
  • Young Adult

Substances

  • Myelin Proteins
  • PMP22 protein, human