Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) syndrome associated with two heterozygous POLG mutations

Polymerase gamma is a mitochondrial DNA polymerase, that responsible for the replication of (mtDNA). It encoded by POLG gene, on chromosome 15q25. Various mutations in this gene have been described, with varied phenotypic manifestations. The triad sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has reported only small group patients mutations. We report case male, who presented phenotype SANDO syndrome was found to two pathogenic, heterozygous gene.