Article
Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.
Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2012
Nakajima Tadashi, Kaneko Yoshiaki, Irie Tadanobu, Takahashi Rieko, Kato Toshimitsu, Iijima Takafumi, Iso Tatsuya, Kurabayashi Masahiko
Abstract excerpt
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary disorder mostly caused by desmosome gene mutations. Recent comprehensive desmosome mutation analyses of Caucasian ARVC patients have revealed the presence of not only a single heterozygous mutation, but also compound and digenic heterozygosity. However, the genetic basis of Japanese ARVC remains poorly elucidated. METHODS AND...
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