Erratum: One-third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region
نویسندگان
چکیده
منابع مشابه
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
INTRODUCTION AND OBJECTIVES Mutation of a sarcomeric gene is the most frequent cause of hypertrophic cardiomyopathy. For each such gene, however, previous studies have reported a range of different mutation frequencies, and clinical manifestations have been highly heterogeneous, both of which limit the use of genetic information in clinical practice. Our aim was to determine the frequency of mu...
متن کاملMutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
AIMS Familial hypertrophic cardiomyopathy (HCM), frequently caused by sarcomeric gene mutations, is characterized by cellular dysfunction and asymmetric left-ventricular (LV) hypertrophy. We studied whether cellular dysfunction is due to an intrinsic sarcomere defect or cardiomyocyte remodelling. METHODS AND RESULTS Cardiac samples from 43 sarcomere mutation-positive patients (HCMmut: mutatio...
متن کامل[Direct detection of malignant mutations in patients with hypertrophic cardiomyopathy].
We determined the prevalence of mutations considered malignant in the genes for beta-myosin heavy chain (MYH7, 11 mutations) and troponin T (TNNT2, 5 mutations) in 30 patients with hypertrophic cardiomyopathy aged 18 to 60 years, 83% of whom had familial antecedents of hypertrophic myocardiopathy or sudden death. Mutations were identified with polymerase chain reaction followed by restriction e...
متن کاملSarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
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 ...
متن کاملSpectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.
BACKGROUND Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited....
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2005
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201385