Evidence map›Paper›PMID 39595988›Full record

ArticleInternational journal of molecular sciences2024

Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the

Wayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik, Bryce Turner, Jennifer Sloan, Nishant Tiwari, Saunder M Bernes, Derek E Neilson and 3 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.Pathophysiology : the official journal of the International Society for Pathophysiology · 2026
    Article
  2. Article
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

13 authors.

Wayne M JepsenCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.ORCID 0000-0002-3020-6005
Andrew FazenbakerPhoenix Children's Hospital, Phoenix, AZ 85016, USA.
Keri RamseyCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Anna BonfittoCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Marcus NaymikCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Bryce TurnerCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Jennifer SloanCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Nishant TiwariPhoenix Children's Hospital, Phoenix, AZ 85016, USA.
Saunder M BernesPhoenix Children's Hospital, Phoenix, AZ 85016, USA.ORCID 0000-0001-5830-6983
Derek E NeilsonPhoenix Children's Hospital, Phoenix, AZ 85016, USA.
Meredith Sanchez-CastilloCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Matt J HuentelmanCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.ORCID 0000-0001-7390-9918
Vinodh NarayananCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.ORCID 0000-0002-0658-3847

Funding

TGen Foundation Not applicableTranslational Genomics Research Institute Not applicable
6 · The paper itself

Abstract

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of a fully functional dystrophin protein in myocytes. In skeletal muscle, the lack of dystrophin ultimately results in muscle wasting and the replacement of myocytes with fatty or fibrous tissues. In the heart, cardiomyocytes eventually fail and cause fatal cardiomyopathy. We present a case of a male patient and his younger brother with a maternally inherited inverted insertion of approximately 306 kb of chromosome 10 in the deep intronic region between exons 44 and 45 of the

Indexed as

DystrophinIntronsMuscular Dystrophy, DuchenneChromosomes, Human, Pair 10ExonsHumansMaleMutagenesis, InsertionalDMD protein, humanDystrophinDMDDuchenne muscular dystrophyrare disordersWGS

Identifiers

PMID39595988
PMCPMC11593467

What OpenQuestion holds

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Registered trials

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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.