Evidence map›Paper›PMID 33353066›Full record

ArticleGenes2020

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

Nicola Laforgia, Lucrezia De Cosmo, Orazio Palumbo, Carlotta Ranieri, Michela Sesta, Donatella Capodiferro, Antonino Pantaleo, Pierluigi Iapicca, Patrizia Lastella, Manuela Capozza and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 22% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Pooled it
  2. Effects ofAnimals : an open access journal from MDPI · 2025
    Article
  3. Article
  4. Review
  5. Article
  6. 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 3 institutions in 2 countries.

Nicola LaforgiaDepartment of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.ORCID 0000-0002-4610-1216
Lucrezia De CosmoDepartment of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
Orazio PalumboDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0001-6583-3482
Carlotta RanieriDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
Michela SestaNeurology Unit, University Hospital Consortium Corporation Polyclinic of Bari, 70124 Bari, Italy.
Donatella CapodiferroDepartment of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
Antonino PantaleoDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.ORCID 0000-0001-9260-8109
Pierluigi IapiccaSOPHiA GENETICS SA HQ, 1025 Saint-Sulpice, Switzerland.ORCID 0000-0002-7995-2391
Patrizia LastellaRare Diseases Centre-Internal Medicine Unit "C. Frugoni", Polyclinic of Bari, 70124 Bari, Italy.
Manuela CapozzaDepartment of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
Federico SchettiniDepartment of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
Nenad BukvicMedical Genetics Section, University Hospital Consortium Corporation Polyclinic of Bari, 70124 Bari, Italy.
Rosanna BagnuloDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
Nicoletta RestaDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
University of Bari Aldo Moro · ITCasa Sollievo della Sofferenza · ITSophia Genetics (Switzerland) · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate acetylcholinesterase protein (COLQ; MIM 603033) has a crucial role in anchoring the enzyme into the synaptic basal lamina. Here, we report on the first case of a patient with a homozygous deletion affecting the last exons of the

Indexed as

AcetylcholinesteraseCollagenConsanguinityDNA Copy Number VariationsElectroencephalographyElectromyographyExonsFemaleGenetic Association StudiesHomozygoteHumansInfantMaleMuscle HypotoniaMuscle ProteinsMyasthenic Syndromes, CongenitalAcetylcholinesteraseCollagenCOLQ protein, humanMuscle Proteinsclinical exome sequencingCOLQcongenital myasthenic syndromeSNP-array

Identifiers

PMID33353066
PMCPMC7765904
OpenAlexW3111932945

What OpenQuestion holds

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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.