Evidence map›Paper›PMID 26316991›Full record

ArticleJournal of neurodegenerative diseases2013

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.

Obaid M Albulym, Danqing Zhu, Stephen Reddel, Marina Kennerson, Garth Nicholson

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurodegenerative diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 46% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Obaid M AlbulymNorthcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia.
Danqing ZhuMolecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
Stephen ReddelNorthcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia ; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
Marina KennersonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia ; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
Garth NicholsonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia ; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
University of Sydney · AUConcord Repatriation General Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders affecting both motor and sensory neurons in the peripheral nervous system. Mutations in the MFN2 gene cause an axonal form of CMT, CMT2A. The V705I variant in MFN2 has been previously reported as a disease-causing mutation in families with CMT2. We identified an affected index patient from an Australian multigenerational family with the V705I variant. Segregation analysis showed that the V705I variant did not segregate with the disease phenotype and was present in control individuals with an allele frequency of 4.4%. We, therefore, propose that the V705I variant is a polymorphism and not a disease-causing mutation as previously reported.

Identifiers

PMID26316991
PMCPMC4437342
OpenAlexW2047974101

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.