Evidence map›Paper›PMID 31672265›Full record

ReviewNeuromuscular disorders : NMD2019

Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature.

Elizabeth M Gibbs, Florian Barthélémy, Emilie D Douine, Natalie C Hardiman, Perry B Shieh, Negar Khanlou, Rachelle H Crosbie, Stanley F Nelson, M Carrie Miceli

Open access · greenAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Neuromuscular disorders : NMD, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.3field-weighted citation impact, top 40% of its field
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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Molecular genetics of dystrophinopathy.Journal of human genetics · 2025
    Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. 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

9 authors at 1 institution in 1 country.

Elizabeth M GibbsDepartment of Integrative Biology and Physiology, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA.
Florian BarthélémyCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Emilie D DouineCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Natalie C HardimanCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Perry B ShiehCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA.
Negar KhanlouCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Rachelle H CrosbieDepartment of Integrative Biology and Physiology, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA; Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA.
Stanley F NelsonCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA.
M Carrie MiceliCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA. Electronic address: cmiceli@ucla.edu.
University of California, Los Angeles · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Training and education CoreU54AR052646 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MCNALLY, ELIZABETH M, SWEENEY, H LEE · 2005 to 2020
$24.1M
Pilot and Feasibility ProgramP30DK041301 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ROZENGURT, JUAN ENRIQUE · 1990 to 2019
$18.0M
Structure-Function Analysis of SarcospanR01AR048179 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CROSBIE, RACHELLE HOPE · 2001 to 2023
$6.9M
UCLA Muscular Dystrophy Core CenterP30AR057230 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SPENCER, MELISSA JAN · 2009 to 2018
$6.2M
Regenerative Musculoskeletal Medicine Training ProgramT32AR059033 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI John S Adams, Nicholas M. Bernthal · 2011 to 2026
$4.8M
Muscle Cell Biology, Pathophysiology, and TherapeuticsT32AR065972 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Rachelle Hope Crosbie, THOMAS A. RANDO · 2016 to 2026
$3.9M
Restoration of muscle cell adhesion to treat cardiomyopathy in muscular dystrophyR01HL126204 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CROSBIE, RACHELLE HOPE · 2016 to 2019
$1.5M
ROLE OF SARCOSPAN IN CELL SURFACE EXPRESSION OF LAMININ-BINDING COMPLEXESF32AR069469 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GIBBS, ELIZABETH M · 2016 to 2016
$53k
NCATS NIH HHS UL1 TR000124NHLBI NIH HHS R01 HL126204NIAMS NIH HHS F32 AR069469NIAMS NIH HHS P30 AR057230NIAMS NIH HHS R01 AR048179NIAMS NIH HHS T32 AR059033NIAMS NIH HHS T32 AR065972NIAMS NIH HHS U54 AR052646NIDDK NIH HHS P30 DK041301
6 · The paper itself

Abstract

Duchenne muscular dystrophy is caused by mutations in the dystrophin-encoding DMD gene. While Duchenne is most commonly caused by large intragenic deletions that cause frameshift and complete loss of dystrophin expression, in-frame deletions in DMD can result in the expression of internally truncated dystrophin proteins and may be associated with a milder phenotype. In this study, we describe two individuals with large in-frame 5' deletions (exon 3-23 and exon 3-28) that remove the majority of the N-terminal region, including part of the actin binding and central rod domains. Both patients had progressive muscle weakness during childhood but are observed to have a relatively mild disease course compared to typical Duchenne. We show that in muscle biopsies from both patients, truncated dystrophin is expressed at the sarcolemma. We have additionally developed a patient-specific fibroblast-derived cell model, which can be inducibly reprogrammed to form myotubes that largely recapitulate biopsy findings for the patient with the exon 3-23 deletion, providing a culture model for future investigation of this unusual case. We discuss these mutations in the context of previously reported 5' in-frame DMD deletions and relevant animal models, and review the spectrum of phenotypes associated with these deletions.

Indexed as

Sequence DeletionAdolescentCells, CulturedChildDystrophinFibroblastsHumansMaleMuscle, SkeletalMuscular Dystrophy, DuchennePhenotypeSeverity of Illness IndexDMD protein, humanDystrophinBecker muscular dystrophyDuchenne muscular dystrophyDystrophinDystrophin-glycoprotein complexUtrophin

Identifiers

PMID31672265
PMCPMC7092699
OpenAlexW2975524719

What OpenQuestion holds

Textmetadata
LicenceTDM
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.