title: Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
abstract: Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named " Surveyor Nuclease", for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel).
authors: Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France.
authors: S
authors: S
authors: Bannwarth
authors: V
authors: V
authors: Procaccio
authors: C
authors: C
authors: Rouzier
authors: K
authors: K
authors: Fragaki
authors: J
authors: J
authors: Poole
authors: B
authors: B
authors: Chabrol
authors: C
authors: C
authors: Desnuelle
authors: J
authors: J
authors: Pouget
authors: J P
authors: JP
authors: Azulay
authors: S
authors: S
authors: Attarian
authors: J F
authors: JF
authors: Pellissier
authors: J J
authors: JJ
authors: Gargus
authors: J E
authors: JE
authors: Abdenur
authors: T
authors: T
authors: Mozaffar
authors: P
authors: P
authors: Calvas
authors: P
authors: P
authors: Labauge
authors: M
authors: M
authors: Pages
authors: D C
authors: DC
authors: Wallace
authors: J C
authors: JC
authors: Lambert
authors: V
authors: V
authors: Paquis-Flucklinger
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D004720:Endonucleases; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000235:genetics; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial; D004720:Endonucleases; C406922:CEL I nuclease