Evidence map›Paper›PMID 33844363›Full record

ArticleJournal of the peripheral nervous system : JPNS2021

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Dragan Vujovic, David R Cornblath, Steven S Scherer

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

Article in Journal of the peripheral nervous system : JPNS, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. 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

3 authors at 2 institutions in 1 country.

Dragan VujovicDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-2690-5436
David R CornblathDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Steven S SchererDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-3900-2367
University of Pennsylvania · USJohns Hopkins University · US

Funding

trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6M
NINDS NIH HHS U54 NS065712
6 · The paper itself

Abstract

We found a p.Ala406Val (c.1217C > T) mutation in MORC2 in three individuals, from two families. All three individuals were evaluated and clinical electrophysiology was completed. The neuropathy began in childhood to early adulthood, with distal weakness progressing to proximal weakness. Vinblastine (for Hodgkin lymphoma) acutely worsened the weakness in one patient. This finding confirms that that the p.Ala406Val mutation in MORC2 causes severe neuropathy. In addition, we report the first case of vinblastine neurotoxicity in Charcot-Marie-Tooth disease type 2Z.

Indexed as

Charcot-Marie-Tooth DiseaseHumansMutationNeoplasmsPhenotypeTranscription FactorsVinblastineMORC2 protein, humanTranscription FactorsVinblastineaxonal CMTCharcot-Marie-Tooth diseaseneuropathyvinblastine

Identifiers

PMID33844363
PMCPMC8544607
OpenAlexW3154376571

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.