Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly
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منابع مشابه
Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
BACKGROUND Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort...
متن کاملEbstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7
Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric pr...
متن کاملCopy number variants in Ebstein anomaly
BACKGROUND Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component. OBJECTIVE We performed a population-based study to...
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sarcalumenin: phosphorylation, comparison with the skeletal muscle sarcalumenin and modulation of ryanodine receptor. J Membr Biol 1999;170: 39–49. 29. Cala SE, Jones LR. Phosphorylation of cardiac and skeletal muscle calsequestrin isoforms by casein kinase II. Demonstration of a cluster of unique rapidly phosphorylated sites in cardiac calsequestrin. J Biol Chem 1991;266:391–398. 30. Szegedi C...
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BACKGROUND Hypertrophic cardiomyopathy, a familial myocardial condition caused by sarcomere protein mutations, is usually recognized by early adulthood. Hypertrophic cardiomyopathy of the elderly has similar clinical features but, notably, a later age of onset and noncontributory family history. Causes of elderly-onset hypertrophic cardiomyopathy are unknown. METHODS AND RESULTS Eighteen wome...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2011
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.110.957985