Evidence map›Paper›PMID 40606663›Full record

ArticleFrontiers in genetics2025

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier.

Jelle Vlaeminck, Sophie Uyttebroeck, Elke De Schutter, Ann Cordenier, Shauni Wellekens, Erwin Ströker, Kelly De Rooms, Christine Helsen, Frederik J Hes, Philippe Giron

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

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Jelle Vlaeminck *Centre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Sophie Uyttebroeck *Centre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Elke De SchutterCentre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Ann CordenierDepartment of Neurology, Center for Neurosciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Jette, Belgium.
Shauni WellekensDepartment of Respiratory Medicine, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Jette, Belgium.
Erwin StrökerHeart Rhythm Management Centre, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Jette, Belgium.
Kelly De RoomsCentre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Christine HelsenCentre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Frederik J HesCentre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Philippe GironCentre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Desmin-related myofibrillar myopathy is a hereditary disorder caused by pathogenic variants in the

Indexed as

Arg406Trpc.1216C>Tcase reportDESdesmin-related myopathymosaicismR406W

Identifiers

PMID40606663
PMCPMC12213651

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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.