Fig. 1

Phylogenetic network of the mtDNA coding region in 66 patients with suspected mitochondrial disease. Patients are identified by numbers inside the nodes. Outgroup = an African sequence (GenBank: AF346980); CRS = the revised Cambridge Reference Sequence (GenBank: NC_012920). Unless marked otherwise, mtDNA variants are transitions. Superscript text indicates transversions. Insertions are marked with superscript (i), back mutations (@) and heteroplasmic mutations are marked with an asterisk (*). Underlined red font, variants predicted to be likely pathogenic, blue font novel mutations, green font rare mutations, purple font multiple mtDNA deletions and POLG1 mutations