The first patient was a 13-year-old boy born at term to healthy, consanguineous parents with no family history of neurodevelopmental disorder. Pregnancy and labor were unremarkable, and his ...

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma (POLG). We modeled a novel POLG ...