Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing 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.
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
8 authors.
Kristl G ClaeysFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0001-9937-443X
Marco SavareseFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0002-2591-244X
Per Harald JonsonFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0003-2423-359X
Veerle GoosensFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Ana TopfFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0002-9227-2526
Anna ViholaFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0001-9249-8480
Volker StraubFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0001-9046-3540
Bjarne UddFrom the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.ORCID https://orcid.org/0000-0002-1101-9730
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Background: Titin truncating variants (TTNtvs) have been repeatedly reported as causative of recessive but not dominant skeletal muscle disorders. Objective: To determine whether a single heterozygous nonsense variant in Methods: In this case series, all available family members (8 affected and 6 healthy) belonging to a single family showing autosomal dominant inheritance were thoroughly examined clinically and genetically. Results: All affected family members showed a similar clinical phenotype with a combination of cardiac and skeletal muscle involvement. Muscle imaging data revealed titin-compatible hallmarks. Genetic analysis revealed in all affected patients a nonsense Discussion: We conclude that a single heterozygous nonsense variant in titin occasionally can cause a dominant myopathy as shown in this large family. Therefore, monoallelic titin truncating variants should be considered as possible disease-causing variants in unsolved patients with a dominant myopathy. However, large segregation studies, muscle imaging, and RNA and protein assays are needed to support the clinical and genetic interpretation.
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.
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule. · full record | OpenQuestion