Recessive mutations in dystonin in two people with Charcot-Marie-Tooth disease

Takeaway

  • Exome sequencing of adult siblings with Charcot-Marie-Tooth (CMT) disease revealed novel dystonin mutations impacting production of a protein involved in axonal transport.

Why this matters

    These findings further our understanding of the genetic cause of this form of neuropathy and provide potential targets for development of therapeutics.