Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations in the COLQ gene are inherited in an autosomal-rec...

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Autores principales: Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Shengnan Wu, Xiaoping Lan, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Jiaming Xi, Jie Zhang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
COLQ gene
CMS
splicing mutation
missense mutation
exon deletion
Pediatrics
RJ1-570
Acceso en línea:https://doaj.org/article/6939934fb6e9403f8f54ed0089c01920
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