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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Publicat a:Am J Hum Genet
Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2020
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Article
Accés en línia: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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