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
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