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      Mitochondrial DNA mutations in human disease

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      Nature Reviews Genetics
      Springer Science and Business Media LLC

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          Abstract

          The human mitochondrial genome is extremely small compared with the nuclear genome, and mitochondrial genetics presents unique clinical and experimental challenges. Despite the diminutive size of the mitochondrial genome, mitochondrial DNA (mtDNA) mutations are an important cause of inherited disease. Recent years have witnessed considerable progress in understanding basic mitochondrial genetics and the relationship between inherited mutations and disease phenotypes, and in identifying acquired mtDNA mutations in both ageing and cancer. However, many challenges remain, including the prevention and treatment of these diseases. This review explores the advances that have been made and the areas in which future progress is likely.

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          Author and article information

          Journal
          Nature Reviews Genetics
          Nat Rev Genet
          Springer Science and Business Media LLC
          1471-0056
          1471-0064
          May 2005
          May 2005
          : 6
          : 5
          : 389-402
          Article
          10.1038/nrg1606
          1762815
          15861210
          b0fdffcd-a80b-4f1c-ab19-5f1d2f7f17ae
          © 2005

          http://www.springer.com/tdm

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