title: Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
abstract: OBJECTIVE
  To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome.
  
  
  METHODS
  Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q(10) (CoQ(10)) status and quantify mitochondrial DNA.
  
  
  RESULTS
  Decreased CoQ(10) values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance.
  
  
  CONCLUSIONS
  mtDNA depletion syndrome was associated with CoQ(10) deficiency in our patient.
authors.affiliation: Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: Jose A
authors.initials: JA
authors.lastname: Sánchez-Alcázar
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Aleix
authors.initials: A
authors.lastname: Navarro-Sastre
authors.forename: Ester
authors.initials: E
authors.lastname: Gallardo
authors.forename: Belén
authors.initials: B
authors.lastname: Bornstein
authors.forename: Dolores
authors.initials: D
authors.lastname: Herrero-Martín
authors.forename: Henry
authors.initials: H
authors.lastname: Rivera
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martin
authors.forename: Ramón
authors.initials: R
authors.lastname: Marti
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
authors.forename: Plácido
authors.initials: P
authors.lastname: Navas
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008931:Mitochondria, Muscle / Q000235:genetics; D028361:Mitochondrial Diseases / Q000209:etiology* / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency
chemical_list: D004272:DNA, Mitochondrial; D014451:Ubiquinone; C024989:coenzyme Q10