S. Puusepp, K. Reinson, S. Pajusalu, Ü. Murumets, E. Õiglane-shlik et al., Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia, Mol. Genet. Metab. Rep, vol.15, pp.80-89, 2018.

E. Ostergaard, L. B. Moller, H. S. Kalkanoglu-sivri, A. Dursun, M. Kibaek et al., Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency, J. Inherit. Metab. Dis, vol.32, pp.235-239, 2009.

C. Viscomi and M. Zeviani, MtDNA-maintenance defects: syndromes and genes, J. Inherit. Metab. Dis, vol.40, pp.587-599, 2017.