Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion

Neurology. 2015 Apr 14;84(15):1605-6. doi: 10.1212/WNL.0000000000001470. Epub 2015 Mar 20.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / genetics*
  • Charcot-Marie-Tooth Disease / genetics*
  • Dosage Compensation, Genetic / genetics*
  • Female
  • Gene Duplication / genetics
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Male
  • Middle Aged
  • Myelin Proteins / genetics*
  • Pedigree
  • Sequence Deletion / genetics

Substances

  • Myelin Proteins
  • PMP22 protein, human

Supplementary concepts

  • Tomaculous neuropathy