HNPP due to a novel missense mutation of the PMP22 gene

Neurology. 2003 Jun 10;60(11):1863-4. doi: 10.1212/01.wnl.0000066049.13848.f2.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Demyelinating Diseases / diagnosis
  • Demyelinating Diseases / genetics*
  • Electromyography
  • Female
  • Genetic Predisposition to Disease
  • Hereditary Sensory and Motor Neuropathy / diagnosis
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Mutation, Missense*
  • Myelin Proteins / genetics*
  • Nerve Compression Syndromes / genetics*
  • Paralysis / genetics*

Substances

  • Myelin Proteins
  • PMP22 protein, human