Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

• Main Authors: Ishiura, Hiroyuki, Shibata, Shota, Yoshimura, Jun, Suzuki, Yuta, Qu, Wei, Doi, Koichiro, Almansour, M. Asem, Kikuchi, Junko Kanda, Taira, Makiko, Mitsui, Jun, Takahashi, Yuji, Ichikawa, Yaeko, Mano, Tatsuo, Iwata, Atsushi, Harigaya, Yasuo, Matsukawa, Miho Kawabe, Matsukawa, Takashi, Tanaka, Masaki, Shirota, Yuichiro, Ohtomo, Ryo, Kowa, Hisatomo, Date, Hidetoshi, Mitsue, Aki, Hatsuta, Hiroyuki, Morimoto, Satoru, Murayama, Shigeo, Shiio, Yasushi, Saito, Yuko, Mitsutake, Akihiko, Kawai, Mizuho, Sasaki, Takuya, Sugiyama, Yusuke, Hamada, Masashi, Ohtomo, Gaku, Terao, Yasuo, Nakazato, Yoshihiko, Takeda, Akitoshi, Sakiyama, Yoshio, Umeda-Kameyama, Yumi, Shinmi, Jun, Ogata, Katsuhisa, Kohno, Yutaka, Lim, Shen Yang, Tan, Ai Huey, Shimizu, Jun, Goto, Jun, Nishino, Ichizo, Toda, Tatsushi, Morishita, Shinichi, Tsuji, Shoji
• Format: Article
• Published: Nature Research 2019
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/24092/; https://doi.org/10.1038/s41588-019-0458-z

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and ne...