Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

J Med Genet. 2003 Nov;40(11):e125. doi: 10.1136/jmg.40.11.e125.
No abstract available

Publication types

  • Case Reports
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Amplification / genetics*
  • Gene Deletion*
  • Gene Duplication*
  • Humans
  • Kearns-Sayre Syndrome / genetics
  • Lod Score*
  • Mutation*

Substances

  • DNA, Mitochondrial

Associated data

  • OMIM/530000
  • OMIM/555000