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

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of the Peripheral Nervous System Wiley

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

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
© 2018 Peripheral Nerve Society
ISSN
1085-9489
eISSN
1529-8027
D.O.I.
10.1111/jns.12248
Publisher site
See Article on Publisher Site

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.

Journal

Journal of the Peripheral Nervous SystemWiley

Published: Jan 1, 2018

Keywords: ; ;

References

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