title: A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
abstract: 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.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: I F
authors.initials: IF
authors.lastname: De Coo
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: H J
authors.initials: HJ
authors.lastname: Ter Laak
authors.forename: M
authors.initials: M
authors.lastname: Bakker
authors.forename: H
authors.initials: H
authors.lastname: Schägger
authors.forename: B A
authors.initials: BA
authors.lastname: Van Oost
authors.forename: H J
authors.initials: HJ
authors.lastname: Smeets
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D003573:Cytochrome b Group / Q000235:genetics*; D004252:DNA Mutational Analysis; D014450:Electron Transport Complex III / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D010085:Oxidative Phosphorylation; D010302:Parkinson Disease, Secondary / Q000150:complications / Q000235:genetics*; D010641:Phenotype
chemical_list: D003573:Cytochrome b Group; D014450:Electron Transport Complex III