title: Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
abstract: This report describes a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, associated with mitochondrial respiratory chain complex I deficiency and a 5.5 kb mtDNA single deletion in skeletal muscle.
authors.affiliation: Department of General Internal Medicine, Hospital Clínic i Provincial, University of Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Barrientos
authors.forename: J
authors.initials: J
authors.lastname: Casademont
authors.forename: D
authors.initials: D
authors.lastname: Genís
authors.forename: F
authors.initials: F
authors.lastname: Cardellach
authors.forename: J M
authors.initials: JM
authors.lastname: Fernández-Real
authors.forename: J M
authors.initials: JM
authors.lastname: Grau
authors.forename: A
authors.initials: A
authors.lastname: Urbano-Márquez
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: V
authors.initials: V
authors.lastname: Nunes
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000201:enzymology / Q000235:genetics*; D015862:Choroid Diseases / Q000201:enzymology / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D004579:Electron Transport / Q000235:genetics; D042967:Electron Transport Complex I; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000201:enzymology / Q000235:genetics*; D008931:Mitochondria, Muscle / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I