Article
Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.
Proceedings of the National Academy of Sciences of the United States of America - 16 Dec 2014
Zhang Miao, D'Aniello Cristina, Verkerk Arie O, Wrobel Eva, Frank Stefan, Ward-van Oostwaard Dorien, Piccini Ilaria, Freund Christian, Rao Jyoti, Seebohm Guiscard, Atsma Douwe E, Schulze-Bahr Eric, Mummery Christine L, Greber Boris, Bellin Milena
Abstract excerpt
Jervell and Lange-Nielsen syndrome (JLNS) is one of the most severe life-threatening cardiac arrhythmias. Patients display delayed cardiac repolarization, associated high risk of sudden death due to ventricular tachycardia, and congenital bilateral deafness. In contrast to the autosomal dominant forms of long QT syndrome, JLNS is a recessive trait, resulting from homozygous (or compound heterozygous) mutations in...
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