Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsPediatric NeurologyGenetic DisordersGenetic SyndromesMitochondrial DiseaseMitochondrial DisordersMitochondrial DysfunctionDisease Onset TimingGenotype-phenotype Correlation In Mitochondrial DiseaseLactate AcidosisLactic AcidosisMitochondrial Depletion SyndromeMitochondrial Disease GeneticsMitochondrial Dna Depletion SyndromesMitochondrial Syndromes
The clinical and genetic features of MDS were heterogeneous. Eighteen novel mutations in six MDS related genes were reported, which expanded the genetic spectrum of MDS in Chinese children.