Heteroplasmy and multiplasmy in mtDNA.

The heteroplasmy was calculated from NGS reads and confirmed by Sanger sequencing (Fig 1B). Multiplasmic length polymorphisms were observed in the D-loop region and showed a trend for over-representation of cases at the 514 (CA)n and the D16189 loci. Multiplasmy was observed about 1.5 times more frequently in cases. Note the tri-allelic multiplasmy results for two subjects (B-76 and S-114) showing 5, 6, and 7 repeat lengths shown in bold. Heteroplasmy/multiplasmy at all these six loci were also confirmed by Sanger sequencing.*multiplasmy occurred in all brain regions sequenced.#Val313Ile.Heteroplasmy and multiplasmy in mtDNA.