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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Pubblicato in:JAMA Neurol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Medical Association 2021
Soggetti:
Original Investigation
Accesso online: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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