نتایج جستجو برای: ژن myh7
تعداد نتایج: 16107 فیلتر نتایج به سال:
Principal Findings The authors identified mutations in almost half of children without a positive family history of cardiomyopathy (25 of 51 affected children) and in two thirds (21 of 33) of affected children with familial cardiomyopathy. Mutations in MYH7 (encoding -myosin heavy chain) and MYBPC3 (encoding myosin-binding protein C) were the most frequent variants identified in the children. I...
Exertional heat stroke (EHS) is an acute life-threatening event that appears to lead long-term health problems such as cardiovascular disease and immunosuppression. However, how skeletal muscle (SKM) affected in the long term by EHS not well understood. One well-known effect of on SKM rhabdomyolysis (RM), caused damage. To regain function, this damage requires effective repair response, which l...
BACKGROUND Hypertrophic cardiomyopathy is a genetically heterogeneous myocardial disease with >1000 causal variants identified. Nonunique variants account for disease in many families. We sought to characterize nonunique variants in Australian families and determine whether they arise from common ancestral mutations or recurrent mutation events. METHODS AND RESULTS Genetic test results of 467...
BACKGROUND Apical hypertrophic cardiomyopathy (HCM) is a unique form of HCM with left ventricular hypertrophy confined to the cardiac apex. The purpose of our study was to report genetic findings in a large series of unrelated patients with apical HCM and compare them with a nonapical HCM cohort. METHODS AND RESULTS Overall, 429 patients with HCM underwent genetic testing. The panel included ...
In this issue of the Netherlands Heart Journal, van der Linde et al. describe a novel Dutch founder mutation (MYH7p.Asn1918Lys) in MYH7, the gene encoding myosin heavy chain 7, leading to cardiomyopathy and congenital heart defects [1]. Van der Linde et al. showed that the MYH7p.Asn1918Lys mutation resulted in predominantly dilated cardiomyopathy (DCM) but was also present in patients suffering...
Principal Findings The authors identified mutations in almost half of children without a positive family history of cardiomyopathy (25 of 51 affected children) and in two thirds (21 of 33) of affected children with familial cardiomyopathy. Mutations in MYH7 (encoding -myosin heavy chain) and MYBPC3 (encoding myosin-binding protein C) were the most frequent variants identified in the children. I...
BACKGROUND Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded in some of AD-CC...
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