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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Bibliografske podrobnosti
izdano v:Am J Hum Genet
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2020
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Article
Online dostop: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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