Article
Understanding the role of NOTCH2 mutation in centronuclear myopathy.
Molecular therapy : the journal of the American Society of Gene Therapy - 6 Aug 2025
Lin Youxi, Zhou Hang, Hu Wenjun, Gao Bo, Liang Tongzhou, Qiu Jincheng, Li Pengfei, Que Yichen, Wong Chipiu, Qiu Xianjian, Deng Zhihuai, Shi Huihong, Liu Song, Chen Jianan, Liao Nianchun, Chen Qihui, Li Xiaojuan, Liang Anjing, Gao Wenjie, Huang Dongsheng
Abstract excerpt
NOTCH2 is a widely expressed protein that plays a crucial role in the normal development and function of various tissues, including skeletal muscle. This study focused on a pedigree with centronuclear myopathy, primarily characterized by muscle weakness and centralized nuclei, and identified the autosomal recessive NOTCH2 p.I1689F mutation through whole-exome sequencing. Using a homologous mutant mouse model,...
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