Partial deficiency of emerin caused by a splice site mutation in EMD.
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E. Matsuura | H. Takashima | A. Yoshimura | I. Higuchi | O. Watanabe | A. Hashiguchi | Y. Inamori | Junhui Yuan | Y. Higuchi | Y. Sakiyama | M. Ando | S. Nagano | K. Michizono | Shinjiro Nagano