A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy

Abstract Background Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. Trinucleotide repeat expansions in non-coding regions of LRP12, G1PC1, NOTCH2NLC...

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Prif Awduron:	Xinzhuang Yang, Dingding Zhang, Si Shen, Pidong Li, Mengjie Li, Jingwen Niu, Dongrui Ma, Dan Xu, Shuangjie Li, Xueyu Guo, Zhen Wang, Yanhuan Zhao, Haitao Ren, Chao Ling, Yang Wang, Yu Fan, Jianxiong Shen, Yicheng Zhu, Depeng Wang, Liying Cui, Lin Chen, Changhe Shi, Yi Dai
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2023-10-01
Cyfres:	BMC Medical Genomics
Pynciau:	CGG repeat expansion Long-read whole-genome sequencing Neurodegenerative disease Oculopharyngodistal myopathy RILPL1
Mynediad Ar-lein:	https://doi.org/10.1186/s12920-023-01586-9
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