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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Veröffentlicht in:	American journal of human genetics 2020-06, Vol.106 (6), p.793-804
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics Adolescent Adult Asian Continental Ancestry Group - genetics Chromosomes, Human, Pair 19 - genetics DNA Methylation Female GGC repeat expansions GIPC1 Humans intranuclear inclusions Lod Score Male Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - pathology Muscular Dystrophies - genetics Muscular Dystrophies - pathology Muscular Dystrophies - physiopathology oculopharyngodistal myopathy Pedigree RNA-Seq Trinucleotide Repeat Expansion - genetics Tumor Suppressor Protein p53 - metabolism Young Adult
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