A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z

Dragan Vujovic, David R. Cornblath, Steven S. Scherer

Research output: Contribution to journalArticlepeer-review


We found a p.Ala406Val (c.1217C > T) mutation in MORC2 in three individuals, from two families. All three individuals were evaluated and clinical electrophysiology was completed. The neuropathy began in childhood to early adulthood, with distal weakness progressing to proximal weakness. Vinblastine (for Hodgkin lymphoma) acutely worsened the weakness in one patient. This finding confirms that that the p.Ala406Val mutation in MORC2 causes severe neuropathy. In addition, we report the first case of vinblastine neurotoxicity in Charcot-Marie-Tooth disease type 2Z.

Original languageEnglish (US)
Pages (from-to)184-186
Number of pages3
JournalJournal of the Peripheral Nervous System
Issue number2
StatePublished - Jun 2021


  • Charcot-Marie-Tooth disease
  • axonal CMT
  • neuropathy
  • vinblastine

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


Dive into the research topics of 'A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z'. Together they form a unique fingerprint.

Cite this