In keeping with this, patients with certain OPA1 mutations show multiple deletions in mitochondrial DNA in skeletal muscle (Amati-Bonneau et al., 2008; Hudson et al., 2008), and mice carrying the Opa1(delTTAG) mutation (found in 30% of all human patients with ADOA) show a multi-systemic phenotype (Sarzi et al., 2012). Here, OPA1 is linked to autosomal dominant optic atrophy.