title: Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.
authors.affiliation: Genetics Department, National Institute of Health, INSA, Porto, Portugal.
authors.forename: Célia
authors.initials: C
authors.lastname: Nogueira
authors.forename: Jorge Sales
authors.initials: JS
authors.lastname: Marques
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.forename: Luisa
authors.initials: L
authors.lastname: Azevedo
authors.forename: Martina
authors.initials: M
authors.lastname: Di Lullo
authors.forename: M Chiara
authors.initials: MC
authors.lastname: Meschini
authors.forename: Antonio
authors.initials: A
authors.lastname: Orlacchio
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D019344:Lactic Acid / Q000097:blood; D017237:Mitochondrial Encephalomyopathies / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D011859:Radiography; D024182:Uniparental Disomy / Q000235:genetics*; D028361:Mitochondrial Diseases
chemical_list: D004272:DNA, Mitochondrial; D019344:Lactic Acid
keywords: C10orf2; Chromosome 10; MDS; Twinkle; Uniparental disomy