Article
Partial deficiency of emerin caused by a splice site mutation in EMD.
Internal medicine (Tokyo, Japan) - 1 Jan 2014
Yuan Junhui, Ando Masahiro, Higuchi Itsuro, Sakiyama Yusuke, Matsuura Eiji, Michizono Kumiko, Watanabe Osamu, Nagano Shinjiro, Inamori Yukie, Hashiguchi Akihiro, Higuchi Yujiro, Yoshimura Akiko, Takashima Hiroshi
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the EMD gene on the X chromosome, which codes for emerin, an inner nuclear membrane protein. Monoclonal antibodies against the N-terminus of emerin protein are used to screen for emerin deficiency in clinical practice. However, these tests may not accurately reflect the disease in some cases. We herein describe the identification of a splice site...
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