ReviewGenes2020
Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies.
Review in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.International journal of molecular sciences · 2024Pooled it
- CK-MM screening using neonatal dried blood spots may be inadequate at detecting all dystrophin mutation carriers.Translational pediatrics · 2026Article
- Genetic cardiomyopathy unmasked by pregnancy: X-linked dystrophinopathy presenting as peripartum cardiomyopathy-a case report.European heart journal. Case reports · 2026Article
- Cardiac MRI in cardiac dystrophinopathy: recommendations on imaging.Open heart · 2026Review
- Review
- Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling.Journal of cachexia, sarcopenia and muscle · 2026Review
- Arrhythmias and cardiac MRI associations in patients with established cardiac dystrophinopathy.Open heart · 2024Article
- Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy.Current cardiology reviews · 2024Review
- Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Article
- Phenotypic features of genetically modifiedRegenerative therapy · 2023Article
- Advances in Dystrophinopathy Diagnosis and Therapy.Biomolecules · 2023Review
- Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2023Review
- A Nonsense Variant in theAnimals : an open access journal from MDPI · 2022Article
- Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations.Open heart · 2022Review
- MicroRNAs in Dystrophinopathy.International journal of molecular sciences · 2022Review
- Sex-Related Differences in Genetic Cardiomyopathies.Journal of the American Heart Association · 2022Review
- Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2021Article
- A scalable, clinically severe pig model for Duchenne muscular dystrophy.Disease models & mechanisms · 2021Article
- Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.Biochimica et biophysica acta. Molecular basis of disease · 2021Review
- Special Issue "Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy".Genes · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with progressive body-wide muscle deterioration, culminating in death as a result of cardiac or respiratory failure. A milder form of DMD exists, called Becker muscular dystrophy (BMD), which is typically caused by in-frame dystrophin gene mutations. It should be emphasized that DMD and BMD are not exclusive to males, as some female dystrophin mutation carriers do present with similar symptoms, generally at reduced levels of severity. Cardiac involvement in particular is a pressing concern among manifesting females, as it may develop into serious heart failure or could predispose them to certain risks during pregnancy or daily life activities. It is known that about 8% of carriers present with dilated cardiomyopathy, though it may vary from 0% to 16.7%, depending on if the carrier is classified as having DMD or BMD. Understanding the genetic and molecular mechanisms underlying cardiac manifestations in dystrophin-deficient females is therefore of critical importance. In this article, we review available information from the literature on this subject, as well as discuss the implications of female carrier studies on the development of therapies aiming to increase dystrophin levels in the heart.
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What OpenQuestion holds
Registered trials
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.