A series of 3 patients with DGUOK deficiency. The pathogenic nonsense variant c.235C>T p. (Gln79*) in the deoxyguanosine kinase gene may be considered a founder mutation in Lebanon. #mitodisease #DGUOK
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RT @FrontGenetics: New Research: Mitochondrial depletion syndrome type 3: the Lebanese variant: Introduction: Mitochondrial DNA depletion s…
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New Research: Mitochondrial depletion syndrome type 3: the Lebanese variant: Introduction: Mitochondrial DNA depletion syndrome type 3 is an emerging disorder linked to variants in the deoxyguanosine kinase gene, which encodes for mitochondrial… #Genetics