Whole mtDNA sequencing of CMT2A patients and healthy maternal relatives in three independent pedigrees

To assess the potential impact of defective MFN2 on the dynamics of mitochondrial heteroplasmy in humans, we employed massive parallel sequencing (MPS) of the entire mtDNA in CMT2A patients and healthy maternal relatives in three independent pedigrees. The entire mtDNA of available patients and controls was amplified inthree fragments using three sets of primers, as previously described (Avital et al., 2012).For each of the analyzed samples, the amplified fragments were mixed in equimolar ratios and sent for library construction and sequencing utilizing the Illumina MiSeq platform (Technion Genome Center, Israel).