Article
FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis.
EMBO molecular medicine - 1 Jul 2025
Wu Peixuan, Song Nan, Xiang Yang, Tao Zhe, Mao Bing, Guo Ruochen, Wang Xin, Wu Dan, Zhang Zhenzhen, Chen Xin, Ma Duan, Zhang Tianyu, Hao Bingtao, Ma Jing
Abstract excerpt
Congenital ptosis, a genetic disorder involving levator palpebrae muscle dysfunction, is often associated with congenital myopathy. The genetic causes of this condition remain poorly understood. In this study, we identified FOXK2 mutations in five pedigrees with congenital myopathy and ptosis through whole exome sequencing and Sanger sequencing. Zebrafish with foxk2 deficiency exhibited underdeveloped skeletal...
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