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...

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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: American Medical Association 2021
Fag:
Original Investigation
Online adgang: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
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