Article
Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.
Circulation journal : official journal of the Japanese Circulation Society - 24 Nov 2023
Fukuyama Megumi, Horie Minoru, Kato Koichi, Aoki Hisaaki, Fujita Shuhei, Yoshida Yoko, Sakazaki Hisanori, Toda Takako, Ueno Michihiko, Izumi Gaku, Momoi Nobuo, Muneuchi Jun, Makiyama Takeru, Nakagawa Yoshihisa, Ohno Seiko
Abstract excerpt
BACKGROUND: Cardiac calmodulinopathy, characterized by a life-threatening arrhythmia and sudden death in the young, is extremely rare and caused by genes encoding calmodulin, namely calmodulin 1 (CALM1), CALM2, and CALM3. METHODS AND RESULTS: We screened 195 symptomatic children (age 0-12 years) who were suspected of inherited arrhythmias for 48 candidate genes, using a next-generation sequencer. Ten probands...
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