Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes

IMPORTANCE: Repeat expansion of CGG in LRP12 has been identified as the causative variation of oculopharyngodistal myopathy (OPDM). However, to our knowledge, the clinicopathologic features of OPDM with CGG repeat expansion in LRP12 (hereafter referred to as OPDM_LRP12) remain unknown. OBJECTIVE: To...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:JAMA Neurol
Main Authors: Kumutpongpanich, Theerawat, Ogasawara, Masashi, Ozaki, Ayami, Ishiura, Hiroyuki, Tsuji, Shoji, Minami, Narihiro, Hayashi, Shinichiro, Noguchi, Satoru, Iida, Aritoshi, Nishino, Ichizo, Mori-Yoshimura, Madoka, Oya, Yasushi, Ono, Kenjiro, Shimizu, Toshio, Kawata, Akihiro, Shimohama, Shun, Toyooka, Keiko, Endo, Kaoru, Toru, Shuta, Sasaki, Oga, Isahaya, Kenji, Takahashi, Masanori P., Iwasa, Kazuo, Kira, Jun-Ichi, Yamamoto, Tatsuya, Kawamoto, Michi, Hamano, Tadanori, Sugie, Kazuma, Eura, Nobuyuki, Shiota, Tomo, Koide, Mizuho, Sekiya, Kanako, Kishi, Hideaki, Hideyama, Takuto, Kawai, Shigeru, Yanagimoto, Satoshi, Sato, Hiroyasu, Arahata, Hajime, Murayama, Shigeo, Saito, Kayoko, Hara, Hideo, Kanda, Takashi, Yaguchi, Hiroshi, Imai, Noboru, Kawagashira, Yuichi, Sanada, Mitsuru, Obara, Kazuki, Kaido, Misako, Furuta, Minori, Kurashige, Takashi, Hara, Wataru, Kuzume, Daisuke, Yamamoto, Mamoru, Tsugawa, Jun, Kishida, Hitaru, Ishizuka, Naoki, Morimoto, Kohei, Tsuji, Yukio, Tsuneyama, Atsuko, Matsuno, Atsuhiro, Sasaki, Ryo, Tamakoshi, Daigo, Abe, Erika, Yamada, Shinichiro, Uzawa, Akiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2021
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8164150/
https://ncbi.nlm.nih.gov/pubmed/34047774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2021.1509
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados