نتایج جستجو برای: mybpc3
تعداد نتایج: 307 فیلتر نتایج به سال:
Hypertrophic cardiomyopathy (HCM) can be caused by a truncation mutant, p.R943X, in the Myosin Binding Protein C3 (MYBPC3). Early and delayed afterdepolarizations are common action potential (AP) features seen early stages of HCM; however, myofibrillar disarray calcium dysfunction may induce other channelopathies AP morphologies. The presence an notch also predisposes to lethal forms arrhythmia...
EDITOR—Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease, which may aZict as many as 1 in 500 subjects. The disease is characterised by an unexplained local or general myocardial hypertrophy and by myocyte disarray. Molecular genetic studies have so far identified nine disease associated genes, all of which encode sarcomeric proteins. The two genes in which most mutati...
Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant genetic cardiovascular disorder marked by genetic and phenotypic heterogeneity. Mutations in the gene encodes the cardiac myosin-binding protein C, cMYBPC3 is amongst the various sarcomeric genes that are associated with HCM. These mutations produce mutated mRNAs and truncated cMyBP-C proteins. In this review, we will discuss the ...
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