Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

Neurology. 2003 May 27;60(10):1721-2. doi: 10.1212/01.wnl.0000059262.34846.8a.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cauda Equina / pathology*
  • Cerebrospinal Fluid Proteins / analysis*
  • Charcot-Marie-Tooth Disease / cerebrospinal fluid
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Chromosomes, Human, Pair 17 / genetics
  • Consanguinity
  • Disease Progression
  • Gene Dosage
  • Gene Duplication
  • Homozygote
  • Humans
  • Hypertrophy
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Myelin Proteins / genetics*
  • Sural Nerve / pathology

Substances

  • Cerebrospinal Fluid Proteins
  • Myelin Proteins
  • PMP22 protein, human