Condition: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4


rs104894632 in MILR1;POLG2 gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 PMID 16685652 2006 Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.