Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):313-315. doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28.
No abstract available

Keywords: Genetics; Hmsn (charcot-marie-tooth).

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Apoptosis Regulatory Proteins / genetics*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Electromyography
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neural Conduction
  • Pedigree
  • Whole Exome Sequencing

Substances

  • Adaptor Proteins, Signal Transducing
  • Apoptosis Regulatory Proteins
  • BAG3 protein, human