Article
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.
Circulation. Arrhythmia and electrophysiology - 1 Oct 2020
Ishikawa Taisuke, Mishima Hiroyuki, Barc Julien, Takahashi Masanori P, Hirono Keiichi, Terada Shigenori, Kowase Shinya, Sato Teruki, Mukai Yasushi, Yui Yoshiaki, Ohkubo Kimie, Kimoto Hiroki, Watanabe Hiroyuki, Hata Yukiko, Aiba Takeshi, Ohno Seiko, Chishaki Akiko, Shimizu Wataru, Horie Minoru, Ichida Fukiko, Nogami Akihiko, Yoshiura Koh-Ichiro, Schott Jean-Jacques, Makita Naomasa
Abstract excerpt
BACKGROUND: Mutations in the nuclear envelope genes encoding LMNA and EMD are responsible for Emery-Dreifuss muscular dystrophy. However, LMNA mutations often manifest dilated cardiomyopathy with conduction disturbance without obvious skeletal myopathic complications. On the contrary, the phenotypic spectrums of EMD mutations are less clear. Our aims were to determine the prevalence of nonsyndromic forms of...
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