Duplications of mitochondrial DNA: implications for pathogenesis.

Abstract excerpt

This paper describes the mapping data obtained on two patients in whom there was clear evidence for a rearrangement of mitochondrial DNA, using restriction enzyme analysis of DNA from whole blood and of polymerase chain reaction products. This suggested that a direct tandem duplication was present, and this was confirmed by sequence analysis of the junction fragment between duplicated segments. In each case the...

Topics

• Child
• DNA, Mitochondrial
• Female
• Gene Rearrangement
• Humans
• Multigene Family
• Muscles
• Muscular Diseases
• Nucleic Acid Hybridization
• Pedigree
• Phenotype
• Polymerase Chain Reaction