Fig. 3.

Estimated carriers per 10,000 Finns and other Europeans of Finland-enriched pathogenic variants causing the ‘candidate’ FDH diseases long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), mitochondrial recessive ataxia syndrome (MIRAS) and myopathic type mtDNA depletion syndrome (TK2 deficiency). LCHAD is caused by a HADHA mutation that affects the peripheral nervous system, muscle, liver, heart and eyes; MIRAS is caused by POLG mutations that manifest as central and peripheral nervous system defects; and the two mutations causing TK2 deficiency affect the muscular system. Although the causative variants are enriched in the Finnish population, these diseases are not phenotypically restricted to Finland and are therefore not considered part of the traditional FDH. MAFs are based on gnomAD v2.1.1 (https://gnomad.broadinstitute.org/), accessed on 23 July 2022.