Article
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
Circulation. Arrhythmia and electrophysiology - 1 Feb 2012
Makita Naomasa, Seki Akiko, Sumitomo Naokata, Chkourko Halina, Fukuhara Shigetomo, Watanabe Hiroshi, Shimizu Wataru, Bezzina Connie R, Hasdemir Can, Mugishima Hideo, Makiyama Takeru, Baruteau Alban, Baron Estelle, Horie Minoru, Hagiwara Nobuhisa, Wilde Arthur A M, Probst Vincent, Le Marec Hervé, Roden Dan M, Mochizuki Naoki, Schott Jean-Jacques, Delmar Mario
Abstract excerpt
BACKGROUND: Progressive familial heart block type I (PFHBI) is a hereditary arrhythmia characterized by progressive conduction disturbances in the His-Purkinje system. PFHBI has been linked to genes such as SCN5A that influence cardiac excitability but not to genes that influence cell-to-cell communication. Our goal was to explore whether nucleotide substitutions in genes coding for connexin proteins would...
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