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J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.

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

Author information

1
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
2
Department of Neurology, Johns Hopkins Hospital, Baltimore, MD, USA.
3
Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.

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.

KEYWORDS:

CMT; Charcot-Marie-Tooth disease; neuropathy

PMID:
29341354
PMCID:
PMC5851840
[Available on 2019-03-01]
DOI:
10.1111/jns.12248

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