Fig. 2.

Next-generation sequencing results viewed in the Integrative Genome Viewer [1] of mtDNA–8993T>G, MT-ATP6 in CMH000067 and maternal sample CMH000069. MT-ATP6, 8993T>G is found in 21 of 21 reads (100% homoplasmy) in CMH000067 (A). Capillary sequencing confirmation of the mtDNA–8993T>G mutation in DNA isolated blood and urine from CMH000067 and her mother (B).