AARS2 mutations can result in two very different phenotypes with different tissue involvement: some mutations particularly affect the heart (Calvo et al., 2012; Gotz et al., 2011), thus producing a fatal, early‐onset cardiomyopathy, whereas others are associated with late‐onset leukoencephalopathy without cardiac involvement, and ovarian failure also been described in female. This evidence concerns the gene AARS2 and ovarian dysfunction.