Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1

Multisystem manifestations in myotonic dystrophy type 1 (DM1) may be due to dosage reduction in multiple genes induced by aberrant expansion of CTG repeats in DMPK, including DMPK, its neighboring genes (SIX5 or DMWD) and downstream MBNL1. However, direct evidence is lacking. Here, we develop a new...

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Detalles Bibliográficos
Autores principales: Yin, Qi, Wang, Hongye, Li, Na, Ding, Yifu, Xie, Zhenfei, Jin, Lifang, Li, Yan, Wang, Qiong, Liu, Xinyi, Xu, Liuqing, Li, Qing, Ma, Yongjian, Cheng, Yanbo, Wang, Kai, Zhong, Cuiqing, Yu, Qian, Tang, Wei, Chen, Wanjin, Yang, Wenjun, Zhang, Fan, Ding, Chen, Bao, Lan, Zhou, Bin, Hu, Ping, Li, Jinsong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015062/
https://www.ncbi.nlm.nih.gov/pubmed/31853004
http://dx.doi.org/10.1038/s41422-019-0264-2

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