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Neuromuscul Disord. 2019 Feb;29(2):134-137. doi: 10.1016/j.nmd.2018.12.008. Epub 2018 Dec 21.

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

Author information

1
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
2
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA.
3
Department of Neurology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
4
Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
5
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
6
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: sscherer@pennmedicine.upenn.edu.

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.

KEYWORDS:

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

PMID:
30642740
PMCID:
PMC6415944
[Available on 2020-02-01]
DOI:
10.1016/j.nmd.2018.12.008

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