A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

Ann Neurol. 1999 Jan;45(1):130-3. doi: 10.1002/1531-8249(199901)45:1<130::aid-art21>3.3.co;2-q.


Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), a novel 4-base pair deletion was identified. This mutation in this highly conserved gene is considered to be pathogenic since it is a heteroplasmic frame shift mutation predicted to lead to a truncated protein.

Publication types

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

MeSH terms

  • Adult
  • Blotting, Southern
  • Cytochrome b Group / genetics*
  • DNA Mutational Analysis
  • Electron Transport Complex III / genetics
  • Gene Deletion*
  • Humans
  • MELAS Syndrome / complications
  • MELAS Syndrome / genetics*
  • Male
  • Mitochondria / genetics*
  • Oxidative Phosphorylation
  • Parkinson Disease, Secondary / complications
  • Parkinson Disease, Secondary / genetics*
  • Phenotype


  • Cytochrome b Group
  • Electron Transport Complex III