Evidence map›Paper›PMID 41223033›Full record

ArticleJournal of neuromuscular diseases2026

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?

Hacer Durmuş, Christoph S Clemen, Evren Önay Uçar, Andreas Hofmann, Ursula Schlötzer-Schrehardt, Elif Mertoğlu, Serdar Ceylaner, Memduh Dursun, Caroline A Sewry, Rolf Schröder and 1 more

Abstract read
In one paragraph

Article in Journal of neuromuscular diseases, 2026. 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

11 authors.

Hacer DurmuşDepartment of Neurology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.ORCID 0000-0002-6426-676X
Christoph S ClemenInstitute of Aerospace Medicine, German Aerospace Centre (DLR), Cologne, Germany.ORCID 0000-0002-1291-4219
Evren Önay UçarDepartment of Molecular Biology and Genetics, Faculty of Science, Istanbul University, Istanbul, Turkey.ORCID 0000-0003-1152-4881
Andreas HofmannDepartment of Veterinary Biosciences, Melbourne Veterinary School, Faculty of Science, The University of Melbourne, Melbourne, Australia.ORCID 0000-0003-4408-5467
Ursula Schlötzer-SchrehardtDepartment of Ophthalmology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Elif MertoğluDepartment of Molecular Biology and Genetics, Faculty of Science, Istanbul University, Istanbul, Turkey.
Serdar CeylanerIntergen Genetic Diagnosis and Research Center, Ankara, Turkey.
Memduh DursunDepartment of Radiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Caroline A SewryDubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK.
Rolf SchröderInstitute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.ORCID 0000-0002-2772-2615
Yesim ParmanDepartment of Neurology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Homozygous

Indexed as

MetalloendopeptidasesMitochondriaMyopathies, Structural, CongenitalHumansKyphosisMuscle, SkeletalMutation, MissenseMetalloendopeptidasescontracturesequinovarus atrophykyphoscoliosis peptidasemyofibrillar myopathyprotein aggregationtongue atrophy

Identifiers

PMID41223033
PMCPMC13434911

What OpenQuestion holds

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LicenceCC BY-NC
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.