Evidence map›Paper›PMID 38136996›Full record

ArticleGenes2023

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.

Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G Feichtinger, Johannes A Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev and 2 more

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

Article in Genes, 2023. 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
0.2field-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, 1 citations in OpenAlex.

  1. [Clinical and genetic features of 5 neonates with centronuclear myopathy caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
    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

12 authors at 5 institutions in 2 countries.

Katarína KušíkováDepartment of Pediatric Neurology, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, 83340 Bratislava, Slovakia.ORCID 0000-0001-9076-313X
Andrea ŠoltýsováDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, 84215 Bratislava, Slovakia.
Andrej FicekDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, 84215 Bratislava, Slovakia.
René G FeichtingerUniversity Children's Hospital, SalzburgerLandeskliniken (SALK), Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.ORCID 0000-0002-4215-8258
Johannes A MayrUniversity Children's Hospital, SalzburgerLandeskliniken (SALK), Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.ORCID 0000-0001-6970-336X
Martina ŠkopkováDepartment of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Science, 84505 Bratislava, Slovakia.ORCID 0000-0001-7927-9777
Daniela GašperíkováDepartment of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Science, 84505 Bratislava, Slovakia.ORCID 0000-0002-5725-6424
Miriam KolníkováDepartment of Pediatric Neurology, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, 83340 Bratislava, Slovakia.
Karoline OrnigDivision of Neuropathology, Department of Pathology and Molecular Pathology, Neuromed Campus, Kepler University Hospital, Johannes Kepler University, 4020 Linz, Austria.
Ognian KalevDivision of Neuropathology, Department of Pathology and Molecular Pathology, Neuromed Campus, Kepler University Hospital, Johannes Kepler University, 4020 Linz, Austria.
Serge WeisDivision of Neuropathology, Department of Pathology and Molecular Pathology, Neuromed Campus, Kepler University Hospital, Johannes Kepler University, 4020 Linz, Austria.ORCID 0000-0001-6750-2599
Denisa WeisDepartment of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, 4020 Linz, Austria.ORCID 0000-0001-8711-3750
Comenius University Bratislava · SKKepler Universitätsklinikum · ATInstitute of Experimental Endocrinology of the Slovak Academy of Sciences · SKParacelsus Medical University · ATBiomedical Research Center of the Slovak Academy of Sciences · SK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundX-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the

methodsWe investigated the genotype-phenotype correlations in newly diagnosed XLMTM patients in a patients' cohort (previously published data plus three novel variants,

resultsSignificant associations between severe phenotype and truncating variants (

conclusionsUsing genotype-phenotype correlations could predict the disease course in most XLMTM patients, but still with limitations. The Face2Gene application seems to be a practical, non-invasive diagnostic approach in XLMTM using the correct algorithm.

Indexed as

Mutation, MissenseMyopathies, Structural, CongenitalGenetic Association StudiesHumansInfant, NewbornPhenotypePrognosiscentronuclear myopathyDeepGestalt technologyFace2Gene applicationgenotype–phenotype correlationsMTM1 genemyotubularinX-linked myotubular myopathy

Identifiers

PMID38136996
PMCPMC10742680
OpenAlexW4389307935

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.