Mitochondrial genome mutations and kidney disease.

Abstract excerpt

Mutations in the mitochondrial genome have been shown to be responsible for several neuromuscular diseases in humans. In this article, we discuss the molecular genetics of mitochondria, their centrality in cellular energy production, and reasons why their genome is extremely vulnerable to mutation. Mitochondrial DNA (mtDNA) mutations and their classic encephalomyopathic clinical phenotypes are briefly reviewed,...

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