Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation

Dev Med Child Neurol. 2011 Apr;53(4):381-2. doi: 10.1111/j.1469-8749.2010.03901.x. Epub 2011 Feb 11.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Adolescent
  • Central Nervous System / physiopathology*
  • Connexins / genetics
  • Gap Junction beta-1 Protein
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Mutation / genetics

Substances

  • Connexins