Article
Mitochondrial depletion syndromes in children and adults.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Sept 2013
Finsterer Josef, Ahting Uwe
Abstract excerpt
To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, RRM2B, or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.