Evidence map›Paper›PMID 41261727›Full record

ArticleAnnals of neurology2026

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.

Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda and 7 more

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

Article in Annals of neurology, 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

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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

17 authors.

Hiroya NaruseDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Jun MitsuiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Akatsuki KubotaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
So OkuboDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-7883-8300
Shuichiro MitsuchiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Kensho SumiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Shuichi TanifujiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Shogo KomakiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Asuka KitamuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Meiko MaedaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-3725-3488
Daiki YashitaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Atsushi SudoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-5925-9450
Masashi HamadaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Wataru SatakeDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Shoji TsujiInstitute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic DMD variants usually follow the reading-frame rule: out-of-frame changes cause Duchenne muscular dystrophy, whereas in-frame ones produce Becker muscular dystrophy (BMD). We report a 23-year-old man with BMD-like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy. A novel hemizygous c.2281delG variant converted an A₄GA₅ motif to A₉, predicting a frameshift; however, Western blot showed ~15% full-length dystrophin. cDNA and polymerse chain reaction (PCR)-free direct RNA sequencing demonstrated transcriptional slippage, adding 1 adenine (A₁₀) that restores the reading frame and dystrophin. This RNA-level rescue of an out-of-frame DMD variant explains the mild phenotype and highlights the importance of transcript-level analysis in dystrophinopathies. ANN NEUROL 2026;99:223-230.

Indexed as

DystrophinFrameshift MutationMuscular Dystrophy, DuchenneHumansMaleYoung AdultDMD protein, humanDystrophin

Identifiers

PMID41261727
PMCPMC12946587

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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.