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The human mitochondrial genome

Estimated probability of having clinical manifestations of Leigh syndrome spectrum based on the heteroplasmy level detected in blood for MT-ATP6 pathogenic variants m.8993T>C, m.8993T>G, m.9176T>C, and m.9185T>C [Ng et al 2019].

Predicted risk to offspring (95% CI) to develop clinical manifestations of Leigh syndrome spectrum due to MT-ATP6 pathogenic variants m.8993T>G or m.8993T>C based on the heteroplasmy level detected in blood in the mother [White et al 1999a]

Estimated probability of a severe outcome (95% CI) for an individual with MT-ATP6 pathogenic variants m.8993T>G or m.8993T>C, based on the heteroplasmy level (i.e., proportion of abnormal mitochondrial DNA) in the individual. A severe outcome is defined as severe manifestations of Leigh syndrome spectrum and probability is calculated using a logistic regression model. Note that the risk of developing severe manifestations is minimal below the approximate threshold value of 50% for m.8993T>G and 75% for m.8993T>C [White et al 1999a].