Although 4 of the 5 cases showed rapid progression and death from systemic disease, 1 child with recessive POLG mutations recovered spontaneously; interestingly, she was homozygous for the p.(Leu304Arg) mutation that is usually associated with a late-onset POLG phenotype of sensory ataxic neuropathy with dysarthria and ophthalmoplegia rather than liver disease (20). This evidence concerns the gene POLG and ophthalmoplegia.