Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

doi:10.1016/j.ajhg.2016.07.008

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

American journal of human genetics - 1 Sept 2016

Auer-Grumbach Michaela, Toegel Stefan, Schabhüttl Maria, Weinmann Daniela, Chiari Catharina, Bennett David L H, Beetz Christian, Klein Dennis, Andersen Peter M, Böhme Ilka, Fink-Puches Regina, Gonzalez Michael, Harms Matthew B, Motley William, Reilly Mary M, Renner Wilfried, Rudnik-Schöneborn Sabine, Schlotter-Weigel Beate, Themistocleous Andreas C, Weishaupt Jochen H, Ludolph Albert C, Wieland Thomas, Tao Feifei, Abreu Lisa, Windhager Reinhard, Zitzelsberger Manuela, Strom Tim M, Walther Thomas, Scherer Steven S, Züchner Stephan, Martini Rudolf, Senderek Jan

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adipose Tissue

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Axons

Share to Charcot-Marie-Tooth Disease

Share to Dementia

Share to Neprilysin

Share to Penetrance

Share to Polyneuropathies

Share to Sural Nerve

Source

Open in PubMed Open full text

Identifiers

PMID: 27588448
DOI: 10.1016/j.ajhg.2016.07.008
PMCID: PMC5011077

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.PMID 27588448Read ↗

A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.Semantic proximity Read ↗

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.Semantic proximity Read ↗

A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.Semantic proximity Read ↗

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.Semantic proximity Read ↗

Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.Semantic proximity Read ↗

Clinical and molecular spectrum of an Iranian Charcot-Marie-Tooth 2T cohort, and the diagnostic importance of whole exome sequencing in identifying co-occurrence inherited disorders.Semantic proximity Read ↗

Molecular genetics of distal hereditary motor neuropathiesSemantic proximity Read ↗

Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).Semantic proximity Read ↗

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.Semantic proximity Read ↗

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.Semantic proximity Read ↗

A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.Semantic proximity Read ↗

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.