ArticleJournal of molecular medicine (Berlin, Germany)2003
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
Article in Journal of molecular medicine (Berlin, Germany), 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 48 citations in OpenAlex.
- Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.International journal of molecular sciences · 2024Review
- Identification of Potential Abnormal Methylation-Modified Genes in Coronary Artery Ectasia.International journal of genomics · 2023Article
- Enhanced nuclear localization of phosphorylated MLKL predicts adverse events in patients with dilated cardiomyopathy.ESC heart failure · 2022Article
- Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022Review
- Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.American journal of physiology. Heart and circulatory physiology · 2016Article
- A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.PloS one · 2015Article
- S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.European journal of human genetics : EJHG · 2014Article
- Dilated cardiomyopathy: the complexity of a diverse genetic architecture.Nature reviews. Cardiology · 2013Review
- Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Journal of the American College of Cardiology · 2011Review
- δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches.Skeletal muscle · 2011Article
- Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy.PloS one · 2011Article
- Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Article
- A novel custom resequencing array for dilated cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Article
- Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.Expert review of molecular diagnostics · 2010Review
- Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?European journal of human genetics : EJHG · 2009Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 20-35% of cases of idiopathic dilated cardiomyopathy are familial. DCM-associated mutations have been reported in 13 genes including the desmin, delta-sarcoglycan, and metavinculin genes. This study screened for variants in these genes in Finnish patients with DCM. All coding regions of the desmin and delta-sarcoglycan genes and the metavinculin-specific exon of the vinculin gene were screened in 52 DCM patients from eastern Finland by PCR-SSCP. We detected a novel mutation, Arg71Thr, in the delta-sarcoglycan gene in two members of a small DCM family. One of the mutation carriers fulfills diagnostic criteria for DCM and is also symptomatic. The other mutation carrier has slightly dilated left ventricle and well preserved systolic function. Therefore carriers of the Arg71Thr mutation had a relatively mild phenotype and a late onset of the disease. Disease-associated mutations were not found in the desmin gene or the metavinculin-specific exon of the vinculin gene. We conclude that the desmin and delta-sarcoglycan genes are not predominant disease-causing genes in patients with DCM in eastern Finland.
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