Article
Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart.
Disease models & mechanisms - 18 Dec 2020
Auxerre-Plantié Emilie, Nielsen Tanja, Grunert Marcel, Olejniczak Olga, Perrot Andreas, Özcelik Cemil, Harries Dennis, Matinmehr Faramarz, Dos Remedios Cristobal, Mühlfeld Christian, Kraft Theresia, Bodmer Rolf, Vogler Georg, Sperling Silke R
Abstract excerpt
The causal genetic underpinnings of congenital heart diseases, which are often complex and multigenic, are still far from understood. Moreover, there are also predominantly monogenic heart defects, such as cardiomyopathies, with known disease genes for the majority of cases. In this study, we identified mutations in myomesin 2 (MYOM2) in patients with Tetralogy of Fallot (TOF), the most common cyanotic heart...
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