Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a

Muscle Nerve. 2014 Jul;50(1):145-7. doi: 10.1002/mus.24205. Epub 2014 May 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Action Potentials / physiology
  • Adolescent
  • Charcot-Marie-Tooth Disease / complications*
  • Charcot-Marie-Tooth Disease / genetics
  • Chloride Channels / genetics
  • Electrodiagnosis
  • Electromyography
  • Humans
  • Male
  • Mutation / genetics
  • Mutation / physiology
  • Myotonia Congenita / complications*
  • Myotonia Congenita / genetics
  • Neurologic Examination

Substances

  • CLC-1 channel
  • Chloride Channels