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Autosomal dominant progressive external ophthalmoplegia (pedigree tree and muscle mitochondrial DNA)

(upper) Black symbols indicate clinically affected patients; the open symbols indicate clinically normal individuals. (lower) Southern-blot analysis of Pvu II-digested muscle DNA extracted from individuals of the family with autosomal dominant progressive external ophthalmoplegia shown in the upper panel. DNA was probed with a radiolabeled polymerase chain reaction fragment of human mitochondrial DNA. The hybridization band corresponds to wild-type mitochondrial DNA; note the collection of smaller bands in affected individuals, corresponding to deleted mitochondrial DNA species. (Contributed by Dr. Massimo Zeviani.)