It was doubtful, however, whether the boy's severe, infantile-onset, clinical presentation with hypotonia, feeding problems, psychomotor retardation and intractable epilepsy could be explained by the relatively low mutation load of the m.3243A>G mutation, and just prior to his death at age 3, compound heterozygosity for the POLG mutations c.2740A>C, p.(Thr914Pro) and c.2243G>C, p.(Trp748Ser) was diagnosed, which was consistent with his clinical features of Alpers’ syndrome. The gene discussed is POLG; the disease is Alpers syndrome.