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 Citations (Scopus)

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

Fingerprint

Polyneuropathies
Phenotype
Mutation

Keywords

  • Charcot-Marie-Tooth disease
  • CMT
  • Neuropathy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. / Dankwa, Lois; Richardson, Jessica; Motley, William W.; Zuchner, Stephan L; Scherer, Steven S.

In: Journal of the Peripheral Nervous System, 01.01.2018.

Research output: Contribution to journalArticle

Dankwa, Lois ; Richardson, Jessica ; Motley, William W. ; Zuchner, Stephan L ; Scherer, Steven S. / A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. In: Journal of the Peripheral Nervous System. 2018.
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