ArticleNeuromuscular disorders : NMD2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.
Article in Neuromuscular disorders : NMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- Guideline
- Deletion of Murine Endothelial <italic>Bag3</italic> Alters the Cellular Proteome among Organs of Origin.Journal of vascular research · 2026Article
- JAK1/2 inhibitor ruxolitinib reduces aggregates in cardiac proteinopathy.EMBO molecular medicine · 2026Article
- Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.Brain : a journal of neurology · 2025Article
- Article
- Mutational and clinical spectrum of myofibrillar myopathy in one center from China.Journal of neuromuscular diseases · 2024Article
- The Genetic Evaluation of Dilated Cardiomyopathy.Structural heart : the journal of the Heart Team · 2023Review
- Article
- Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study.Muscles (Basel, Switzerland) · 2023Article
- Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.Journal of the American Heart Association · 2022Review
- Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments.Heart failure reviews · 2022Review
- Genetic Insights into Primary Restrictive Cardiomyopathy.Journal of clinical medicine · 2022Review
- Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022Review
- Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report.Medicine · 2022Article
- The role of BAG3 in health and disease: A "Magic BAG of Tricks".Journal of cellular biochemistry · 2022Review
- BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2021Article
- Article
- Overexpression of human BAG3Nature communications · 2021Article
- Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.Nature genetics · 2021Article
- Advances in the role and mechanism of BAG3 in dilated cardiomyopathy.Heart failure reviews · 2021Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by disintegration of myofibrils. The inheritance pattern is commonly autosomal dominant, but there has been a striking absence of secondary cases noted in a BAG3-associated subtype. We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant axons. In one family, transmission to a pair of siblings has occurred from their asymptomatic father who showed somatic mosaicism. In two other families, neither of the parents was affected or showed detectable level of somatic mosaicism. These observations suggest that the BAG3 variant of myofibrillar myopathy may result from a spontaneous mutation at an early point of embryonic development and that transmission from a mosaic parent may occur more than once. The study underlines the importance of parental evaluation as it may have implications for genetic counseling.
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Registered trials
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