title: Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA.
abstract: We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. All five patients had a severe decrease (2 to 34% of normal) in the amount of muscle mitochondrial DNA (mtDNA). The depletion of mtDNA correlated with absence of mtDNA-encoded translation products and with loss of cytochrome c oxidase enzyme activity in individual muscle fibers. This mitochondrial myopathy of childhood illustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases, the specific depletion of mtDNA in affected tissues.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032.
authors.forename: H J
authors.initials: HJ
authors.lastname: Tritschler
authors.forename: F
authors.initials: F
authors.lastname: Andreetta
authors.forename: C T
authors.initials: CT
authors.lastname: Moraes
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: E
authors.initials: E
authors.lastname: Arnaudo
authors.forename: M J
authors.initials: MJ
authors.lastname: Danon
authors.forename: S
authors.initials: S
authors.lastname: Glass
authors.forename: B M
authors.initials: BM
authors.lastname: Zelaya
authors.forename: E
authors.initials: E
authors.lastname: Vamos
authors.forename: N
authors.initials: N
authors.lastname: Telerman-Toppet
mesh_terms: D015139:Blotting, Southern; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000648:ultrastructure*; D009132:Muscles / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D009693:Nucleic Acid Hybridization
chemical_list: D004272:DNA, Mitochondrial