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

doi:10.1111/jns.12248

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

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 language	English (US)
Journal	Journal of the Peripheral Nervous System
DOIs	https://doi.org/10.1111/jns.12248
State	Accepted/In press - Jan 1 2018

Keywords

Charcot-Marie-Tooth disease
CMT
Neuropathy

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

Access to Document

10.1111/jns.12248

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Dankwa, L., Richardson, J., Motley, W. W., Zuchner, S. L., & Scherer, S. S. (Accepted/In press). A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. Journal of the Peripheral Nervous System. https://doi.org/10.1111/jns.12248

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