RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Cell Cycle Proteins / genetics*
  • Cohort Studies
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mutation / genetics*
  • Ophthalmoplegia, Chronic Progressive External / diagnosis
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / metabolism
  • Ribonucleotide Reductases / deficiency*
  • Ribonucleotide Reductases / genetics*

Substances

  • Cell Cycle Proteins
  • DNA, Mitochondrial
  • RRM2B protein, human
  • Ribonucleotide Reductases