The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.

by Tatsuaki Kurosaki, Shintaroh Ueda, Takafumi Ishida, Koji Abe, Kinji Ohno, Tohru Matsuura
Published 2012-01-01

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity

by Yoshihiro Yamashita, Tohru Matsuura, Tatsuaki Kurosaki, Yoshinobu Amakusa, Masanobu Kinoshita, Tohru Ibi, Ko Sahashi, Kinji Ohno
Published 2014-09-01