An Analysis of DGUOK Variants Associated with Mitochondrial DNA Depletion Syndrome

Abstract

Mitochondrial DNA Depletion Syndrome(MDDS) is a clinically heterogeneous group of autosomal recessive mitochondrial disorders that reduces the number of mitochondrial DNA (mtDNA) in the affected cells. This disease is characterized by the disruption of hepatocytes, skeletal muscle, and cerebral function. This study\u27s purpose is to identify and assess the pathogenicity of DGUOK variants associated with MDDS.https://ouscholars.oakwood.edu/student-posters/1084/thumbnail.jp