Evidence map›Paper›PMID 30642740›Full record

ArticleNeuromuscular disorders : NMD2019

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Lois Dankwa, Jessica Richardson, William W Motley, Mena Scavina, Steve Courel, Tanya Bardakjian, Stephan Züchner, Steven S Scherer

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

Article in Neuromuscular disorders : NMD, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 43% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.Frontiers in cell and developmental biology · 2022
    Review
  3. Article
  4. Article
  5. 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

8 authors at 5 institutions in 1 country.

Lois DankwaDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Jessica RichardsonDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
William W MotleyDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA.
Mena ScavinaDepartment of Neurology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Steve CourelDepartment of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Tanya BardakjianDepartment of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
Stephan ZüchnerDepartment of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Steven S SchererDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: sscherer@pennmedicine.upenn.edu.
Hospital of the University of Pennsylvania · USUniversity of Miami · USUniversity of Pennsylvania · USAlfred I. duPont Hospital for Children · USJohns Hopkins University · US

Funding

trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6M
Autoimmune Mechanisms in Peripheral NeuropathyR01NS107851 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SCHERER, STEVEN SIMON, SU, MAUREEN A · 2018 to 2021
$2.0M
How do dominant PMP2 mutations cause demyelinating neuropathy?R21NS104874 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI SCHERER, STEVEN SIMON · 2017 to 2018
$443k
NINDS NIH HHS R01 NS107851NINDS NIH HHS R21 NS104874NINDS NIH HHS U54 NS065712
6 · The paper itself

Abstract

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family. In affected family members, electromyography showed moderate to severe, chronic denervation in distal muscles. Such variable clinical severity highlights the need to do careful assessments of at risk individuals when assessing MFN2 variants.

Indexed as

MutationAdultAged, 80 and overCharcot-Marie-Tooth DiseaseFemaleGenotypeGTP PhosphohydrolasesHumansMaleMiddle AgedMitochondrial ProteinsPedigreePhenotypeSeverity of Illness IndexYoung AdultGTP PhosphohydrolasesMFN2 protein, humanMitochondrial ProteinsCharcot-Marie-Tooth disease Type 2CMT2ALate-onset axonal neuropathyMultigenerational affectionVariable penetrance

Identifiers

PMID30642740
PMCPMC6415944
OpenAlexW2906388539

What OpenQuestion holds

Textmetadata
LicenceTDM
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.