A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy
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چکیده
منابع مشابه
A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) is one of the most common causes of sudden cardiac death in young adults and is a familial disease in at least 60% of cases. Causative mutations have been identified in several sarcomeric genes, including the myosin binding protein C (MYBPC3) gene. Although numerous causative mutations have been identified, the pathogenetic process is still poorly understood. A...
متن کامل[High-risk hypertrophic cardiomyopathy associated with a novel mutation in cardiac Myosin-binding protein C].
Hypertrophic cardiomyopathy is an autosomal dominant inherited disease characterized by ventricular hypertrophy and myofibril disarray. Mutations responsible for hypertrophic cardiomyopathy have been identified in 11 genes that encode for cardiac sarcomere proteins. Traditionally, hypertrophic cardiomyopathy due to mutation of the myosin-binding protein C gene (MYBPC3) has been thought to follo...
متن کاملmutation analysis of three exons of myosin-binding protein c3 in patients with hypertrophic cardiomyopathy
background: hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. it comes from mutations in sarcomeric proteins. cardiac myosin-binding protein c3 is one of the critical genes in hypertrophic cardiomyopathy (hcm) and sudden cardiac death, accounting for about 20% of hcm-causing mutations. genetic testing is recommended in patients with hcm....
متن کاملHypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice.
Familial hypertrophic cardiomyopathy (FHC) is an inherited autosomal dominant disease caused by mutations in sarcomeric proteins. Among these, mutations that affect myosin binding protein-C (MyBP-C), an abundant component of the thick filaments, account for 20% to 30% of all mutations linked to FHC. However, the mechanisms by which MyBP-C mutations cause disease and the function of MyBP-C are n...
متن کاملShort communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
RATIONALE The myosin-binding protein C isoform 3 (MYBPC3) variant Arg502Trp has been identified in multiple hypertrophic cardiomyopathy (HCM) cases, but compelling evidence to support or refute the pathogenicity of this variant is lacking. OBJECTIVE To determine the prevalence, origin and clinical significance of the MYBPC3 Arg502Trp variant. METHODS AND RESULTS The prevalence of MYBPC3 Arg...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2005
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddi386