title: [PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].
abstract: OBJECTIVE
  To describe the clinical data and the results of molecular analyses of the mitochondrial DNA in a patient with Kearns-Sayre Syndrome.
  
  
  METHODS
  Molecular analyses of mitochondrial DNA from the patient included PCR amplification of a region where the common Kearns- Sayre deletion is located and Genotype-Phenotype correlations are discussed.
  
  
  RESULTS
  The affected patient showed ptosis, progressive external ophthalmoplegia, pigmentary changes in the peripheral retina and right bundle block. Molecular analysis disclosed a approximately 5 kb deletion in the mitochondrial DNA and some wild type mtDNA indicating heteroplasmy.
  
  
  CONCLUSIONS
  Molecular analysis of mitochondrial DNA confirmed the clinical diagnosis of Kearns-Sayre syndrome. PCR provides a rapid method to identify the common 4997 bp deletion in Kearns-Sayre syndrome. In such cases, PCR diagnosis could avoid invasive methods such as muscle biopsy or spinal tap.
authors.affiliation: Instituto de Oftalmología Conde de Valenciana, México DF, Mexico. arturorammir@gmail.com
authors.forename: A
authors.initials: A
authors.lastname: Ramírez-Miranda
authors.forename: A
authors.initials: A
authors.lastname: Navas-Pérez
authors.forename: L
authors.initials: L
authors.lastname: Gurria-Quintana
authors.forename: J
authors.initials: J
authors.lastname: Vargas-Ortega
authors.forename: C
authors.initials: C
authors.lastname: Murillo-Correa
authors.forename: J C
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics; D004272:DNA, Mitochondrial; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial