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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Hum Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2020
Pynciau:
Article
Mynediad Ar-lein: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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