The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement. Trinucleotide repeat expansions in LRP12 or GIPC1 were recently reported to be associated with OPDM. However, a significant portion...

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Detalles Bibliográficos
Autores principales: Yu, Jiaxi, Deng, Jianwen, Guo, Xueyu, Shan, Jingli, 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, Zhou, Binbin, Li, Pidong, Liu, Yinzhe, Wang, Yang, Yan, Chuanzhu, Hong, Daojun, Yuan, Yun, Wang, Zhaoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320266/
https://www.ncbi.nlm.nih.gov/pubmed/33693509
http://dx.doi.org/10.1093/brain/awab077

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