title: Mitochondrial genome analysis in Kearns-Sayre syndrome.
abstract: We analysed the mitochondrial genome of one patient with chronic and progressive bilateral ophthalmoplegia. This patient also had abnormal EKG showing cardiac conduction defects and pigmentary retinopathy, suggestive of the Kearns-Sayre syndrome. On muscle biopsy, with Gomori trichrome stain, the fibers showed an increase in red-staining material in the intermyofibrillary network and the subsarcolemmal region. On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. Analysis of mitochondrial DNA (mtDNA) from the patient and her mother showed no deleted mtDNA.
authors.affiliation: Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: P
authors.initials: P
authors.lastname: Lertrit
authors.forename: L
authors.initials: L
authors.lastname: Atchaneeyasakul
authors.forename: V
authors.initials: V
authors.lastname: Devahastin
authors.forename: V
authors.initials: V
authors.lastname: Saechan
authors.forename: T
authors.initials: T
authors.lastname: Sangruchi
authors.forename: N
authors.initials: N
authors.lastname: Neungton
authors.forename: S
authors.initials: S
authors.lastname: Lekhakula
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial