title: Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.
abstract: Large-scale mitochondrial DNA deletion was found in a 5-year-old girl with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. Muscle biopsy disclosed ragged-red fibers and cytochrome c oxidase negative fibers. Respiratory chain studies were normal. Southern blot analysis demonstrated a 10.5-Kb heteroplasmic deletion in both muscle and blood. Deleted genomes represented 40% of total mitochondrial DNA in muscle and 63% in blood. There was no evidence of point mutations characteristic of MELAS. We suggest that not only patients with progressive external ophthalmoplegia syndromes, but also those with defined syndromes [e.g., MELAS or myoclonic epilepsy and ragged-red fibers (MERRF)] without characteristic point mutations, be screened for mitochondrial DNA deletions.
authors.affiliation: Centro de Investigacion, Hospital 12 de Octubre, Madrid, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: T
authors.initials: T
authors.lastname: Garcia-Silva
authors.forename: C R
authors.initials: CR
authors.lastname: Barrionuevo
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: R
authors.initials: R
authors.lastname: Muley
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004272:DNA, Mitochondrial / Q000235:genetics*; D005198:Fanconi Syndrome / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D017243:MERRF Syndrome / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu