Heterozygous <i>Polg</i> mutation causes motor dysfunction due to mt<scp>DNA</scp> deletions

Abstract

Heterozygous Polg (D257A) knock-in mice showed tissue-specific, age-dependent accumulation of multiple mtDNA deletions in muscles and the brain which was likely to result in neuromuscular symptoms. Polg (+/D257A) mice may be used as an animal model of adCPEO associated with impaired mtDNA maintenance.