A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

Lois Dankwa, Jessica Richardson, William W. Motley, Stephan L Zuchner, Steven S. Scherer

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2," and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.

Original languageEnglish (US)
JournalJournal of the Peripheral Nervous System
DOIs
StateAccepted/In press - Jan 1 2018

Keywords

  • Charcot-Marie-Tooth disease
  • CMT
  • Neuropathy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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