Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance
نویسندگان
چکیده
منابع مشابه
Screening for hypertrophic cardiomyopathy
by specialty and consultant was sent, every three months, to local general practitioners, who had the additional benefit of a direct, ex-directory telephone link to the centre to make inquiries. Other equally cogent suggestions for improvements in information systems and outpatient waiting list management have been voiced but have gone, it seems, unheard.46 The NHS is modelled on the "patient p...
متن کاملFaster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.
The first mutation associated with hypertrophic cardiomyopathy (HCM) is the R403Q mutation in the gene encoding β-myosin heavy chain (β-MyHC). R403Q locates in the globular head of myosin (S1), responsible for interaction with actin, and thus motor function of myosin. Increased cross-bridge relaxation kinetics caused by the R403Q mutation might underlie increased energetic cost of tension gener...
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متن کامل[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...
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2019
ISSN: 0366-6999,2542-5641
DOI: 10.1097/cm9.0000000000000428