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368 OPA1 mutations are typically heterozygous, as bi-allelic homozygous mutations, which lead to a complete loss of OPA1 function, are likely embryonically lethal

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(Chen et al., 2008)

117 Only three of the studies included in this review were on NAC, but data were not divided into the separate compounds and there is no public access to the original studies that were published in 1972 and 1989, making it difficult to assess the use of NAC in this context