The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
Jiaxi Yu, Jingli Shan, Meng Yu, Di Li, Zhiying Xie, Wei Zhang, He Lv, Lingchao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Xueyu Guo, Yang Wang, Jianying Xi, Wenhua Zhu, Yuwei Da, Daojun Hong, Yun Yuan, Chuanzhu Yan, Zhaoxia Wang, Jianwen Deng
Topics & Concepts
BiologyPathogenesisAmpliconMyopathyUntranslated regionTrinucleotide repeat expansionPolymerase chain reactionMethylationMolecular biologyGeneticsGeneRNAAlleleImmunologyGenetic Neurodegenerative DiseasesGlycogen Storage Diseases and MyoclonusCellular transport and secretion