NDUFB11 and microphthalmia: Mutations in the Ndufb11 gene, including an in frame deletion of F93B11 located in the NDUFB11 TMH that would impact its interaction with ND4, compromise CI stability and have been associated with various diseases such as congenital sideroblastic anemia, microphthalmia with linear skin defects, and lactic acidosis (Van Rahden et al., 2015; Lichtenstein et al., 2016; Torraco et al., 2017).