Article
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
PloS one - 1 Jan 2011
Posch Maximilian G, Waldmuller Stephan, Müller Melanie, Scheffold Thomas, Fournier David, Andrade-Navarro Miguel A, De Geeter Bernard, Guillaumont Sophie, Dauphin Claire, Yousseff Dany, Schmitt Katharina R, Perrot Andreas, Berger Felix, Hetzer Roland, Bouvagnet Patrice, Özcelik Cemil
Abstract excerpt
Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known about the role of mutations in sarcomeric genes in ASDII etiology. To assess the role of sarcomeric genes in patients with inherited ASDII, we analyzed 13 sarcomeric...
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