Fig. 4.

Long-range PCR analysis of mtDNA. Long-range analysis of dysferlin patient 6 (DYSF6) (representative).

Notes: Red dashed line on all gels indicates wild type mitochondrial DNA size. 1Kb ladder (Promega) run on every agarose gel to size bands and a non-deleted, wild type DNA sample and a no template were included as controls. (a) Long-range PCR results for 20 single fibre lysates from DYSF 6 showed no deletions to be present, while (b) the RRM2B positive control long-range PCR results show multiple large-scale mtDNA deletions detected (*).