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Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies.

Abstract:

Axonal polyneuropathies are a frequent cause of progressive disability in the elderly. Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory disorders, but often the underlying causes remain elusive. Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the second half of life and is genetically largely unexplained. We assumed age-dependent penetrance of mutations in a so far unknown gene causing lat...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2016.07.008

Authors


Auer-Grumbach, M More by this author
Schabhüttl, M More by this author
Weinmann, D More by this author
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Friedrich-Baur-Stiftung More from this funder
Judy Seltzer Levenson Memorial Fund for CMT Research More from this funder
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Publisher:
Elsevier Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
99
Issue:
3
Pages:
607-623
Publication date:
2016-09-05
Acceptance date:
2016-07-07
DOI:
ISSN:
0002-9297 and 1537-6605
Pubs id:
pubs:641343
URN:
uri:ddc6971f-f3e2-4cb3-9d7b-af266ee2126a
UUID:
uuid:ddc6971f-f3e2-4cb3-9d7b-af266ee2126a
Local pid:
pubs:641343
Language:
English
Keywords:

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