ArticleMuscle & nerve2020
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Article in Muscle & nerve, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00313677 (Clinical Trial Readiness for the Dystroglycanopathies), which is not on this map. Cited by 20 papers, 2 of them syntheses that pooled it.
What it found
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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.
Clinical Trial Readiness for the Dystroglycanopathies
Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 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
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Discordant Cardiomyopathy Phenotypes in Siblings With Homozygous FKRP c.1100T>C.JACC. Case reports · 2026Article
- Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.Neurology. Genetics · 2026Article
- Metabo-epigenetic circuits of heart failure: chromatin-modifying enzymes as determinants of metabolic plasticity.EMBO molecular medicine · 2026Review
- Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.Neurology. Clinical practice · 2025Review
- New genotype-phenotype correlations and transcriptomic findings in limb-girdle muscular dystrophy R9.Journal of neurology · 2025Article
- Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.Annals of clinical and translational neurology · 2025Observational
- Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy and left ventricular ejection fraction of 27%: a case report.Frontiers in medicine · 2025Article
- Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review.BMC musculoskeletal disorders · 2024Review
- Molecular Study of the Fukutin-Related Protein (International journal of molecular sciences · 2024Article
- Matriglycan maintains t-tubule structural integrity in cardiac muscle.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).Journal of neurology · 2024Article
- Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.Neurology. Genetics · 2023Article
- Pain interference and fatigue in limb-girdle muscular dystrophy R9.Neuromuscular disorders : NMD · 2023Article
- The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction.Communications biology · 2022Review
- Episodic Myocarditis in Arrhythmogenic Cardiomyopathy: A Novel Treatment Target?JACC. Case reports · 2022Article
- Diagnostic delay in patients with FKRP-related muscular dystrophy.Neuromuscular disorders : NMD · 2021Observational
- Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation.Neuromuscular disorders : NMD · 2021Article
- Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.Muscle & nerve · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
introductionReported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9 (LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an LDMDR9 cohort.
methodsEchocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and clinical function were evaluated.
resultsTwenty-five (45%) participants had cardiomyopathy. The median age at first abnormal echocardiogram for subjects homozygous for the c.826C>A variant was 54.2 y compared to 18.1 y for all other fukutin-related protein (FKRP) genotypes (P < .0001). There was a weak correlation between ejection fraction and 10-Meter Walk Test speed (r = 0.25), but no correlation with forced vital capacity (r = 0.08). DISCUSSION: Cardiomyopathy is prevalent among those with LGMDR9 and occurs later in subjects homozygous for the c.826C>A mutation. These data will help to guide surveillance and management.
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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.