Article
Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran.
Clinical laboratory - 1 Jan 2016
Emrahi Leila, Tabrizi Mehrnoush Toufan, Gharehsouran Jalal, Ardebili Seyyed Mojtaba Mohaddes, Estiar Mehrdad Asghari
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the leading cause of sudden cardiac death (SCD) in children and young adults and is the most frequent genetically determined cardiovascular disease following autosomal dominant pattern of inheritance. A number of genes have been shown to be responsible for HCM including MYBPC3. Cmybc, the protein encoded by MYBPC3 is a sarcomeric thick filament protein that...
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