B. V

Polg Mutation–Related Mitochondrial Disease Presenting With Progressive Cerebellar Ataxia: A Case Report and Review of The Literature

Background POLG-related mitochondrial disorders are a heterogeneous group of inherited diseases caused by pathogenic variants in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. Neurological manifestations range from developmental regression and epilepsy to cerebellar ataxia, p...