Article
Congenital myopathies: pathophysiological mechanisms and promising therapies.
Journal of translational medicine - 2 Sept 2024
Zhang Han, Chang Mengyuan, Chen Daiyue, Yang Jiawen, Zhang Yijie, Sun Jiacheng, Yao Xinlei, Sun Hualin, Gu Xiaosong, Li Meiyuan, Shen Yuntian, Dai Bin
Abstract excerpt
Congenital myopathies (CMs) are a kind of non-progressive or slow-progressive muscle diseases caused by genetic mutations, which are currently defined and categorized mainly according to their clinicopathological features. CMs exhibit pleiotropy and genetic heterogeneity. Currently, supportive treatment and pharmacological remission are the mainstay of treatment, with no cure available. Some adeno-associated...
Topics
- Humans
- Animals
- Muscular Diseases
- Genetic Therapy
- Myopathies, Structural, Congenital
- Mutation