Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

Conclusions: To date only few AD cases presenting either missense or truncating DNA2 variants have been reported. None of them presented with a cardiac involvement or rhabdomyolysis. Here we enlarge the genetic and phenotypic spectrum of DNA2-related mitochondrial disorders.
Source: Frontiers in Neurology - Category: Neurology Source Type: research