Meis-Kindblom et al. [17] described a series of 30 cases of LS including a case of mixed LS, which is composed of WDLS and MLS with a coexistence of ring/giant marker chromosome (characteristic of WDLS) and t(12;16)/FUS-DDIT3 (specific for MLS). The gene discussed is DDIT3; the disease is Leigh syndrome.