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

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 and RIL...

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Detalles Bibliográficos
Autores principales: Yang, Xinzhuang, Zhang, Dingding, Shen, Si, Li, Pidong, Li, Mengjie, Niu, Jingwen, Ma, Dongrui, Xu, Dan, Li, Shuangjie, Guo, Xueyu, Wang, Zhen, Zhao, Yanhuan, Ren, Haitao, Ling, Chao, Wang, Yang, Fan, Yu, Shen, Jianxiong, Zhu, Yicheng, Wang, Depeng, Cui, Liying, Chen, Lin, Shi, Changhe, Dai, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10590002/
https://www.ncbi.nlm.nih.gov/pubmed/37864208
http://dx.doi.org/10.1186/s12920-023-01586-9

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