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

Loading next page...
 
/lp/wiley/a-mutation-in-the-heptad-repeat-2-domain-of-mfn2-in-a-large-cmt2a-dTanEZYbrz
Publisher
Wiley
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

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off