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Mitochondrial genetic diseases

3 Nov 2010

Abstract excerpt

PURPOSE OF REVIEW: Mitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease is caused by defects in the mitochondrial DNA-encoded genes or in nuclear genes whose products are imported into the mitochondrion. Great strides have been made in determining the cause of mitochondrial disorders, but the clinical ability to diagnose these...

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PMID: 21045694
DOI: 10.1097/mop.0b013e3283402e21

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