Evidence map›Paper›PMID 39121134›Full record

ArticleJournal of neuromuscular diseases2024

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Topf, Corinna Preusse, Rolf Stucka, Kay Nolte, Tim Strom, Riccardo Berutti, Xuehui Jiang and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

16 authors.

Andreas RoosDepartment of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.
Martin HäuslerDepartment of Paediatrics, Division of Neuropediatrics and Social Pediatrics, RWTH Aachen University Hospital, Aachen, Germany.
Laxmikanth KolliparaLeibniz-Institut für Analytische Wissenschaften - ISAS - e.V. Dortmund, Germany.
Ana TopfJohn Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Corinna PreusseDepartment of Neuropathology, Humboldt-Universität zu Berlin and Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Rolf StuckaDepartment of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University Munich, Munich, Germany.
Kay NolteInstitute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
Tim StromInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Riccardo BeruttiInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Xuehui JiangDepartment of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada.
Randi KollDepartment of Neuropathology, Humboldt-Universität zu Berlin and Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Hanns LochmüllerDepartment of Medicine, Division of Neurology, Children' s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
Sabine Maria SchachtDepartment of Diagnostic and Interventional Radiology, University Hospital RWTH, Aachen, Germany.
René P ZahediLeibniz-Institut für Analytische Wissenschaften - ISAS - e.V. Dortmund, Germany.
Joachim WeisInstitute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
Jan SenderekDepartment of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University Munich, Munich, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Proteomics of patient-derived muscle and combined screening of genomic data for copy number variations identified a HNRNPA1 de novo intragenic deletion as causative for the phenotype. Our report expands the spectrum of HNRNPA1-related diseases towards early-childhood onset and adds HNRNPA1 to the growing list of ALS and myopathy genes for which certain mutations may cause severe pediatric phenotypes.

Indexed as

Heterogeneous Nuclear Ribonucleoprotein A1Muscular DiseasesAge of OnsetChildDisease ProgressionFemaleHumansMuscle, SkeletalMutationPhenotypeHeterogeneous Nuclear Ribonucleoprotein A1hnRNPA1 protein, humanInclusion body myopathymultisystem proteinopathymuscle proteomicsneuromyopathyproteogenomicsvacuolar myopathy

Identifiers

PMID39121134
PMCPMC11380306

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.