Article
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
Circulation - 28 Jun 2005
Sakata Kenji, Shimizu Masami, Ino Hidekazu, Yamaguchi Masato, Terai Hidenobu, Fujino Noboru, Hayashi Kenshi, Kaneda Tomoya, Inoue Masaru, Oda Yoshio, Fujita Takashi, Kaku Bunji, Kanaya Hounin, Mabuchi Hiroshi
Abstract excerpt
BACKGROUND: The STA gene encodes emerin and is one of the genes that is affected in Emery-Dreifuss muscular dystrophy (EDMD). Although it has been reported that EDMD caused by the STA gene mutation is associated with X-linked recessive inheritance, the genotype-phenotype correlations, with special reference to cardiac manifestations, are not well defined. METHODS AND RESULTS: We identified 16 carriers (7 male and...
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