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10.1016/j.exer.2010.09.006 97

In contrast, the genetic aetiology of a specific syndrome can be due to mutations in different genes, as in the case of Leigh syndrome (LS), which can be caused by nDNA and mtDNA mutations in more than 100 genes overall [12]

1 (download XLSX Source data used in plots

A 2022 UK study found that of those with B12 deficiency, pernicious anaemia was the underlying diagnosis in nearly half of the cases, making it a major cause