Evidence map›Paper›PMID 39712290›Full record

ArticleNeurology. Genetics2025

Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, Madoka Mori-Yoshimura, Eri Takeshita, Koichi Kimura, Hajime Arahata, Yasuhiro Takeshima, Toshiaki Takahashi, Keiko Ishigaki and 5 more

Abstract readComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Akinori NakamuraDepartment of Clinical Research and Department of Neurology, NHO Matsumoto Medical Center.ORCID https://orcid.org/0000-0001-8801-6688
Tsuyoshi MatsumuraDepartment of Neurology, NHO Osaka Toneyama Medical Center.ORCID https://orcid.org/0000-0001-6241-3626
Katsuhisa OgataDepartment of Neurology, NHO Higashisaitama National Hospital, Hasuda.ORCID https://orcid.org/0009-0000-8327-6499
Madoka Mori-YoshimuraDepartment of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.ORCID https://orcid.org/0000-0003-4312-9114
Eri TakeshitaDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.ORCID https://orcid.org/0000-0001-6744-9046
Koichi KimuraDepartment of Laboratory Medicine/Cardiology, The Institute of Medical Science, The University of Tokyo.ORCID https://orcid.org/0009-0008-8979-835X
Hajime ArahataDepartment of Neurology, Neuro-Muscular Center, NHO Omuta Hospital.ORCID https://orcid.org/0000-0003-2238-7798
Yasuhiro TakeshimaDepartment of Pediatrics, Hyogo Medical University, Nishinomiya.ORCID https://orcid.org/0000-0002-6468-7185
Toshiaki TakahashiDepartment of Neurology, NHO Sendai Nishitaga Hospital.ORCID https://orcid.org/0009-0001-6751-7309
Keiko IshigakiDepartment of Pediatrics, Tokyo Women's Medical University School of Medicine.ORCID https://orcid.org/0000-0001-8435-7418
Hiroyuki AwanoOrganization for Research Initiative and Promotion, Tottori University, Yonago.ORCID https://orcid.org/0000-0001-9846-4142
Kazuma SugieDepartment of Neurology, Nara Medical University, Kashihara.ORCID https://orcid.org/0000-0003-0148-4687
Tatsuya FujiiDepartment of Pediatrics, Shiga Medical Center for Children, Moriyama; and.ORCID https://orcid.org/0000-0001-7115-8532
Hideki OiDepartment of Clinical Data Science, Clinical Research and Education Promotion Division, National Center of Neurology and Psychiatry, Kodaira, Japan.ORCID https://orcid.org/0009-0000-6005-0016
Hirofumi KomakiDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.ORCID https://orcid.org/0000-0002-0659-1417

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in Methods: The study focused on patients with pathogenic microvariants or duplications in Results: Thirty-three patients with BMD had pathogenic microvariants (missense variants, nonsense variants, splice site variants, and other microvariants), and 16 patients had in-frame duplications in Discussion: Microvariant forms, in particular, tend to vary in clinical severity according to the site of the dystrophin protein mutation rather than the type of pathogenic variant. The results of this study may be useful for genetic counseling, care, and treatment of patients with BMD.

Identifiers

PMID39712290
PMCPMC11661972

What Socratic holds

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LicenceCC BY-NC-ND
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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 Socratic graph.