Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs) in the m...

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Publicado en:Am J Hum Genet
Autores principales: Deng, Jianwen, Yu, Jiaxi, Li, Pidong, Luan, Xinghua, Cao, Li, Zhao, Juan, Yu, Meng, Zhang, Wei, Lv, He, Xie, Zhiying, Meng, LingChao, Zheng, Yiming, Zhao, Yawen, Gang, Qiang, Wang, Qingqing, Liu, Jing, Zhu, Min, Guo, Xueyu, Su, Yanan, Liang, Yu, Liang, Fan, Hayashi, Tomohiro, Maeda, Meiko Hashimoto, Sato, Tatsuro, Ura, Shigehisa, Oya, Yasushi, Ogasawara, Masashi, Iida, Aritoshi, Nishino, Ichizo, Zhou, Chang, Yan, Chuanzhu, Yuan, Yun, Hong, Daojun, Wang, Zhaoxia
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7273532/
https://ncbi.nlm.nih.gov/pubmed/32413282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.04.011
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