This phenotype closely resembles those caused by autosomal dominant mutations in cytoplasmic ARS, such as AARS (OMIM: 613287), HARS (OMIM: 616625), YARS (OMIM: 608323) and MARS (OMIM: 616280), which have been associated with distal motor neuropathy or polyneuropathies in children and adults [13]. Here, AARS1 is linked to polyneuropathy.