ArticleCirculation. Cardiovascular genetics2009
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.
Article in Circulation. Cardiovascular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 3 of them syntheses that pooled it.
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Who cites it
78 citing papers in PubMed, 3 syntheses or guidelines pooled it, 159 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
- Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases.Orphanet journal of rare diseases · 2022Pooled it
- Cardiac Phenotype-Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review.Pediatric cardiology · 2021Pooled it
- Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy.Science translational medicine · 2012Trial
- Mexico's First Heart Transplant in a Patient with Becker Muscular Dystrophy Reveals an Overlooked Cause of Idiopathic Dilated Cardiomyopathy.Muscles (Basel, Switzerland) · 2026Article
- Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy: A 3-Year Natural History Study.Neurology · 2025Article
- Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.Pediatric cardiology · 2025Article
- Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy.EMBO reports · 2024Article
- Potential limitations of microdystrophin gene therapy for Duchenne muscular dystrophy.JCI insight · 2024Article
- The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.Journal of neuromuscular diseases · 2024Article
- Article
- Systemic deletion ofProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Tissue Rings PLOD Out a Second Hit in Becker Muscular Dystrophy.JACC. Basic to translational science · 2023Article
- In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.International journal of molecular sciences · 2023Article
- The Implication of Hinge 1 and Hinge 4 in Micro-Dystrophin Gene Therapy for Duchenne Muscular Dystrophy.Human gene therapy · 2023Article
- The X-linked Becker muscular dystrophy (bmx) mouse models Becker muscular dystrophy via deletion of murine dystrophin exons 45-47.Journal of cachexia, sarcopenia and muscle · 2023Article
- TRF2 rescues telomere attrition and prolongs cell survival in Duchenne muscular dystrophy cardiomyocytes derived from human iPSCs.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Article
18 more citing papers are in PubMed but not listed here.
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10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundBecker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy often result from deletion mutations in the dystrophin gene that may lead to expression of an altered dystrophin protein in cardiac muscle. Cardiac involvement is present in approximately 70% of BMD and all X-linked dilated cardiomyopathy cases. To date, the timing of cardiomyopathy development remains unpredictable. We analyzed 78 BMD and X-linked dilated cardiomyopathy patients with common deletion mutations predicted to alter the dystrophin protein and correlated their mutations to cardiomyopathy age of onset. This approach was chosen to connect dystrophin structure with function in the heart. METHODS AND
resultsDetailed cardiac information was collected for BMD and X-linked dilated cardiomyopathy patients with defined dystrophin gene deletion mutations. Patients were grouped based on the dystrophin protein domain affected by the deletion. Deletions affecting the amino-terminal domain are associated with early-onset dilated cardiomyopathy (DCM; mid-20s), whereas deletions removing part of the rod domain and hinge 3 have a later-onset DCM (mid-40s). Further, we modeled the effects of the most common mutations occurring in the rod domain on the overall structure of the dystrophin protein. By combining genetic and protein information, this analysis revealed a strong correlation between specific protein structural modifications and DCM age of onset.
conclusionsWe identified specific regions of the dystrophin gene that when mutated predispose BMD patients to early-onset DCM. In addition, we propose that some mutations lead to early-onset DCM by specific alterations in protein folding. These findings have potential implications for early intervention in the cardiac care of BMD patients and for therapeutic approaches that target the heart in dystrophinopathies.
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