title: Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues.
abstract: A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver and kidney of a patient who died of Kearn-Sayre Syndrome (KSS). The widespread occurrence of the deletion correlates with the multisystem nature of KSS and supports the hypothesis that this is a genetic disease due to an alteration of mtDNA presumably arising in the oocyte or early embryo.
authors.affiliation: Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Ponzetto
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.forename: L
authors.initials: L
authors.lastname: Bet
authors.forename: A
authors.initials: A
authors.lastname: Prelle
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
mesh_terms: D001921:Brain / Q000473:pathology*; D004272:DNA, Mitochondrial / Q000032:analysis*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology*; D009886:Ophthalmoplegia / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial