Evidence map›Paper›PMID 38392191›Full record

ArticleCurrent issues in molecular biology2024

Next Generation Sequencing and Electromyography Reveal the Involvement of the

Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone and 1 more

Abstract read
In one paragraph

Article in Current issues in molecular biology, 2024. 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
–field-weighted citation impact
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.

  1. Article
  2. Dissecting the Genetic Contribution of Tooth Agenesis.International journal of molecular sciences · 2025
    Review
  3. Review
  4. Article
  5. Potential Role ofGenes · 2025
    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

11 authors.

Mirella VinciOasi Research Institute-IRCCS, 94018 Troina, Italy.
Girolamo Aurelio VitelloOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-6285-9692
Donatella GrecoOasi Research Institute-IRCCS, 94018 Troina, Italy.
Simone TreccarichiOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-5631-9991
Alda RagalmutoOasi Research Institute-IRCCS, 94018 Troina, Italy.
Antonino MusumeciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-8999-3365
Antonio FalleaOasi Research Institute-IRCCS, 94018 Troina, Italy.
Concetta FedericoDepartment of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.
Francesco CalìOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-8667-8223
Salvatore SacconeDepartment of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.ORCID 0000-0001-7568-5823
Maurizio EliaOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-0414-1359

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and significantly affecting skeletal muscle. Gene mutations affecting transmembrane ionic flow are strongly linked to skeletal muscle disorders, particularly myopathies, disrupting muscle excitability and contraction. Electromyography (EMG) analysis performed on a patient who complained of weakness and fatigue revealed the presence of primary muscular damage, suggesting an early-stage myopathy. Whole exome sequencing (WES) did not detect potentially causative variants in known myopathy-associated genes but revealed a novel homozygous deletion of the

Indexed as

early-onset myopathyelectromyographygenetic diseasesion channelopathyP2RX6 geneP2X receptorsskeletal musclewhole exome sequencing

Identifiers

PMID38392191
PMCPMC10887510

What OpenQuestion holds

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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.