The clinical, histochemical, and molecular spectrum of <i>PEO1</i> (Twinkle)-linked adPEO

Abstract

Our data suggest a shared clinical phenotype with variable mild multiorgan involvement, and that the contribution of PEO1 mutations as a cause of adPEO may well be underestimated. Direct sequencing of the PEO1 gene should be considered in adPEO patients prior to muscle biopsy.