Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility.
Qi LiYilian HuangShen ZhangFei GongGuangxiu LuGe LinJing DaiPublished in: Journal of assisted reproduction and genetics (2024)
Our study expands the mutation spectrum and phenotypic spectrum of ACTL9.