Thirty Years Later, Case Closed: A Case of PMP22 Triplication From Anticipation

Mayo Clin Proc. 2016 May;91(5):687-8. doi: 10.1016/j.mayocp.2015.12.019.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fatal Outcome
  • Female
  • Genes, Duplicate*
  • Humans
  • Myelin Proteins / genetics*
  • Polyneuropathies / diagnosis
  • Polyneuropathies / genetics*
  • Polyneuropathies / mortality*
  • Sural Nerve / diagnostic imaging*
  • Young Adult

Substances

  • Myelin Proteins
  • PMP22 protein, human