Figure 1.

Flow diagram of study analysis. Ninety MRCD patients were analyzed in this study. Sixty-one patients had normal polymorphisms and 29 had mtDNA variants. Of these variants, 13 patients had MRCD causative mutations that had been previously described. We identified three novel large deletions and 13 unreported variants. Of the unreported variants, one patient with complex II deficiency was excluded because complex II is not encoded by mtDNA. Six patients were excluded because their enzyme deficiency pattern did not coincide with the variants found in mtDNA. Four patients were excluded because of the lack of fibroblast enzyme deficiency or low heteroplasmy. The remaining two cases were analyzed by cybrid study.