Evidence map›Paper›PMID 34943989›Full record

ArticleCells2021

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in

Adela Della Marina, Annabelle Arlt, Ulrike Schara-Schmidt, Christel Depienne, Andrea Gangfuß, Heike Kölbel, Albert Sickmann, Erik Freier, Nicolai Kohlschmidt, Andreas Hentschel and 4 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 50% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
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

14 authors at 4 institutions in 2 countries.

Adela Della MarinaDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.ORCID 0000-0003-0737-6142
Annabelle ArltInstitute of Clinical Genetics and Tumor Genetics Bonn, 53111 Bonn, Germany.
Ulrike Schara-SchmidtDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Andrea GangfußDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
Heike KölbelDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
Albert SickmannLeibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
Erik FreierLeibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
Nicolai KohlschmidtInstitute of Clinical Genetics and Tumor Genetics Bonn, 53111 Bonn, Germany.
Andreas HentschelLeibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
Joachim WeisInstitute of Neuropathology, University Hospital Aachen, RWTH-Aachen University, 52074 Aachen, Germany.
Artur CzechLeibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
Anika GrüneboomLeibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.ORCID 0000-0002-7928-5613
Andreas RoosDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
Leibniz Institute for Analytical Sciences - ISAS · DEChildren's Hospital of Eastern Ontario · CAUniversitätsklinikum Aachen · DEUniversity of Duisburg-Essen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPresynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in

methodsExome sequencing (ES) was carried out to identify the molecular genetic cause of the disease in a 5-year-old male patient and histological, immunofluorescence as well as electron- and CARS-microscopic studies were performed to delineate the muscle pathology, which has so far only been studied in VAChT-deficient animal models.

resultsES unraveled compound heterozygous missense and nonsense variants (c.315G>A, p.Trp105* and c.1192G>C, p.Asp398His) in

conclusionsWe suggest that nonsense variants have a more detrimental impact on the clinical manifestation of

Indexed as

AcetylcholineAnimalsChild, PreschoolCodon, NonsenseDisease Models, AnimalExome SequencingHumansMaleMiceMuscle Fibers, SkeletalMutation, MissenseMyasthenic Syndromes, CongenitalNeuromuscular JunctionVesicular Acetylcholine Transport ProteinsAcetylcholineCodon, NonsenseSLC18A3 protein, humanSlc18a3 protein, mouseVesicular Acetylcholine Transport ProteinsCARS microscopycongenital myasthenic syndromelipid accumulationmuscle biopsySLC18A1vesicular acetylcholine transporter (VAChT)

Identifiers

PMID34943989
PMCPMC8700530
OpenAlexW4200597938

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.