A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

Lois Dankwa, Jessica Richardson, William W. Motley, Mena Scavina, Steve Courel, Tanya Bardakjian, Stephan Züchner, 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 neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family. In affected family members, electromyography showed moderate to severe, chronic denervation in distal muscles. Such variable clinical severity highlights the need to do careful assessments of at risk individuals when assessing MFN2 variants.

Original languageEnglish (US)
Pages (from-to)134-137
Number of pages4
JournalNeuromuscular Disorders
Volume29
Issue number2
DOIs
StatePublished - Feb 2019

Keywords

  • CMT2A
  • Charcot-Marie-Tooth disease Type 2
  • Late-onset axonal neuropathy
  • Multigenerational affection
  • Variable penetrance

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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    Dankwa, L., Richardson, J., Motley, W. W., Scavina, M., Courel, S., Bardakjian, T., Züchner, S., & Scherer, S. S. (2019). A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscular Disorders, 29(2), 134-137. https://doi.org/10.1016/j.nmd.2018.12.008