Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.

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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

1. Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025
   Pooled it
2. The R120G knock-in mutation in αB-crystallin is insufficient to induce cardiomyopathy in mice.American journal of physiology. Heart and circulatory physiology · 2026
   Article
3. Gene Therapy for Heart Failure: Impact on Mitochondrial Dysfunction.Biomedicines · 2026
   Review
4. Oxidative Stress and Mitochondrial Dysfunction in Cardiovascular Aging: Current Insights and Therapeutic Advances.Biomedicines · 2026
   Review
5. Hypertrophic Cardiomyopathy: Current Perspectives.Reviews in cardiovascular medicine · 2025
   Review
6. Intermediate filaments and their associated molecules.Journal of biomedical research · 2025
   Article
7. Desmin-related myopathy manifested by various types of arrhythmias: a case report and literature review.The Journal of international medical research · 2024
   Review
8. Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.Journal of neurology · 2024
   Article
9. A case report of adolescent myofibrillar myopathy due to aHeliyon · 2024
   Article
10. Arrhythmogenic Right Ventricular Cardiomyopathy in Children: A Systematic Review.Diagnostics (Basel, Switzerland) · 2024
    Review
11. Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.Stem cell research & therapy · 2024
    Article
12. The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.Internal medicine (Tokyo, Japan) · 2023
    Article
13. Impaired Cardiomyocyte Maturation Leading to DCM: A Case Report and Literature Review.Medicina (Kaunas, Lithuania) · 2023
    Review
14. Mitochondrial quality control in health and cardiovascular diseases.Frontiers in cell and developmental biology · 2023
    Review
15. Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.International journal of molecular sciences · 2022
    Article
16. Genetic Insights into Primary Restrictive Cardiomyopathy.Journal of clinical medicine · 2022
    Review
17. The AUTOTAC chemical biology platform for targeted protein degradation via the autophagy-lysosome system.Nature communications · 2022
    Article
18. The Desmin MutationBiomedicines · 2021
    Article
19. A Case Report of a Rare Heterozygous Variant in theCJC open · 2021
    Article
20. Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.International journal of molecular sciences · 2021
    Review

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

Authors and funding

22 authors at 5 institutions in 2 countries.

Funding

Abstract

PubMed holds no abstract for this paper.

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