Evidence map›Paper›PMID 31658606›Full record

ArticleGenes2019

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Virginia Garcia-Solaesa, Pablo Serrano-Lorenzo, Maria Antonia Ramos-Arroyo, Alberto Blázquez, Inmaculada Pagola-Lorz, Mercè Artigas-López, Joaquín Arenas, Miguel A Martín, Ivonne Jericó-Pascual

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PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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
1.0field-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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Review
  3. Recurrent acute kidney injury and rhabdomyolysis: Answers.Pediatric nephrology (Berlin, Germany) · 2021
    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

9 authors at 2 institutions in 1 country.

Virginia Garcia-SolaesaDepartment of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, ma.ramos.arroyo@navarra.es (M.A.R.-A.). virginia.garcia.solaesa@navarra.es.
Pablo Serrano-LorenzoLaboratorio de Enfermedades Mitocondriales y Neurometabólicas. Instituto de Investigación Hospital 12 de Octubre, 28041 Madrid, Spain, pserranolorenzo.imas12@h12o.es (P.S.-L.). pserranolorenzo.imas12@h12o.es.ORCID 0000-0002-5661-7574
Maria Antonia Ramos-ArroyoDepartment of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, ma.ramos.arroyo@navarra.es (M.A.R.-A.). ma.ramos.arroyo@navarra.es.
Alberto BlázquezLaboratorio de Enfermedades Mitocondriales y Neurometabólicas. Instituto de Investigación Hospital 12 de Octubre, 28041 Madrid, Spain, pserranolorenzo.imas12@h12o.es (P.S.-L.). abencinar@hotmail.com.
Inmaculada Pagola-LorzDepartment of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarra Institute for Health Research), 31008 Pamplona, Spain, inmaculada.pagola.lorz@navarra.es (I.P.-L.). inmaculada.pagola.lorz@navarra.es.
Mercè Artigas-LópezDepartment of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, ma.ramos.arroyo@navarra.es (M.A.R.-A.). merce.artigas.lopez@navarra.es.
Joaquín ArenasLaboratorio de Enfermedades Mitocondriales y Neurometabólicas. Instituto de Investigación Hospital 12 de Octubre, 28041 Madrid, Spain, pserranolorenzo.imas12@h12o.es (P.S.-L.). joaquin.arenas@salud.madrid.org.
Miguel A MartínLaboratorio de Enfermedades Mitocondriales y Neurometabólicas. Instituto de Investigación Hospital 12 de Octubre, 28041 Madrid, Spain, pserranolorenzo.imas12@h12o.es (P.S.-L.). mamcasanueva.imas12@h12o.es.ORCID 0000-0003-4741-772X
Ivonne Jericó-PascualDepartment of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarra Institute for Health Research), 31008 Pamplona, Spain, inmaculada.pagola.lorz@navarra.es (I.P.-L.). ivonne.jerico.pascual@navarra.es.
Complejo Hospitalario de Navarra · ESResearch Institute Hospital 12 de Octubre · ES

Funding

PREVENTING YOUTHFUL DRUG ABUSE: A LONGITUDINAL STUDYR01DA003721 · NIDA · UNIVERSITY OF WASHINGTON · PI HAWKINS, J DAVID · 1985 to 1992
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6 · The paper itself

Abstract

Phosphoglycerate kinase (PGK)1 deficiency is an X-linked inherited disease associated with different clinical presentations, sometimes as myopathic affectation without hemolytic anemia. We present a 40-year-old male with a mild psychomotor delay and mild mental retardation, who developed progressive exercise intolerance, cramps and sporadic episodes of rhabdomyolysis but no hematological features. A genetic study was carried out by a next-generation sequencing (NGS) panel of 32 genes associated with inherited metabolic myopathies. We identified a missense variant in the

Indexed as

Mutation, MissenseAdultCells, CulturedGenetic Diseases, X-LinkedHumansMaleMetabolism, Inborn ErrorsPhosphoglycerate KinaseRNA SplicingSpainPGK1 protein, humanPhosphoglycerate Kinaseabnormalities in mRNA splicingmissense variantmyopathic formPGK1 deficiencyphosphoglycerate kinase 1 gene (PGK1)

Identifiers

PMID31658606
PMCPMC6826351
OpenAlexW2979685689

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.