title: Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
abstract: By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.
authors.affiliation: Department of Biochemistry and Genetics, Istituto Nazionale Neurologico, Carlo Besta, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: C
authors.initials: C
authors.lastname: Gellera
authors.forename: M
authors.initials: M
authors.lastname: Pannacci
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: A
authors.initials: A
authors.lastname: Prelle
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: S
authors.initials: S
authors.lastname: DiDonato
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D004272:DNA, Mitochondrial / Q000032:analysis*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics; D008969:Molecular Sequence Data; D009886:Ophthalmoplegia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014018:Tissue Distribution
chemical_list: D004272:DNA, Mitochondrial