In addition, 2 patients had atypical MELAS syndrome: one with the m.8344A>G variant in MT-TK more usually associated with myoclonus epilepsy with ragged red fibers (MERRF) (111), and one patient with an MT-ND4 variant (m.12015T>C;p.Leu419Pro) with atypical MELAS combined with comorbid polyglandular autoimmune syndrome type 2 including autoimmune adrenal disease. The gene discussed is MT-ND4; the disease is MELAS.