Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders


We reported previously that the DNA polymerase γ (POLG) W748S mutation, a common cause of mitochondrial recessive ataxia syndrome (MIRAS), has a common ancient founder for all the disease chromosomes in Finland, Norway, United Kingdom, and Belgium. Here, we present results showing that the same ancestral chromosome underlies MIRAS and Alpers syndrome in… (More)
DOI: 10.1038/sj.ejhg.5201831


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