Article
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
Journal of cardiovascular translational research - 1 Feb 2013
Kassem Heba Sh, Azer Remon S, Saber-Ayad Maha, Ayad Maha S, Moharem-Elgamal Sarah, Magdy Gehan, Elguindy Ahmed, Cecchi Franco, Olivotto Iacopo, Yacoub Magdi H
Abstract excerpt
The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3, MYH7, and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantly (p=0.002) associated with a higher genetic positive yield (49/78, 62.8 %). The majority of the detected mutations in...
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