Infantile-onset disorders of mitochondrial replication and protein synthesis.


Most inherited mitochondrial diseases in infants result from mutations in nuclear genes encoding proteins with specific functions targeted to the mitochondria rather than primary mutations in the mitochondrial DNA (mtDNA) itself. In the past decade, a growing number of syndromes associated with dysfunction resulting from tissue-specific depletion of mtDNA… (More)
DOI: 10.1177/0883073811402072


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