ArticleGenes2019
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 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
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025Pooled it
- Too rigid to strike: Excess desmin at Z-discs underlies a restrictive cardiomyopathy in GAN mice.iScience · 2026Article
- Unveiling New Insights: ReinterpretingClinical case reports · 2026Article
- Potential Contribution ofCardiology research and practice · 2026Article
- Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report.BMC pediatrics · 2025Article
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation.Frontiers in cardiovascular medicine · 2025Article
- Mutational and clinical spectrum of myofibrillar myopathy in one center from China.Journal of neuromuscular diseases · 2024Article
- Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.European journal of medical genetics · 2024Article
- Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.Medicina (Kaunas, Lithuania) · 2024Review
- hsa-miR-548v controls the viscoelastic properties of human cardiomyocytes and improves their relaxation rates.JCI insight · 2024Article
- Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.Stem cell research & therapy · 2024Article
- Focus on Paediatric Restrictive Cardiomyopathy: Frequently Asked Questions.Diagnostics (Basel, Switzerland) · 2023Review
- Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.Genes · 2023Review
- Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.International journal of molecular sciences · 2023Article
- Epigenetics inCells · 2023Review
- Induced pluripotent stem cell-based models: Are we ready for that heart in a dish?Frontiers in cell and developmental biology · 2023Article
- Bi-AllelicInternational journal of molecular sciences · 2022Article
- The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative PathogenicCells · 2022Article
- Modeling Nonischemic Genetic Cardiomyopathies Using Induced Pluripotent Stem Cells.Current cardiology reports · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block. Genetic analysis revealed a novel homozygous missense mutation in the
Indexed as
Identifiers
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.