MELAS associated with mutations in the POLG1 gene

Neurology. 2007 May 15;68(20):1741-2. doi: 10.1212/01.wnl.0000261929.92478.3e.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Substitution
  • Biopsy
  • Blotting, Southern
  • Brain / pathology
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA, Mitochondrial / genetics
  • DNA-Directed DNA Polymerase / genetics*
  • Exons / genetics
  • False Negative Reactions
  • Genes, Recessive
  • Heterozygote
  • Humans
  • MELAS Syndrome / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Muscle Fibers, Skeletal / chemistry
  • Mutation, Missense*
  • Phenotype
  • Point Mutation*
  • Sequence Deletion

Substances

  • DNA, Mitochondrial
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human