title: Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.
abstract: We report the ultrastructural and biochemical alterations of muscle mitochondria in two girls with Rett syndrome. Our findings suggest the presence of an energy metabolism impairment the primary or secondary role of which in the pathogenesis of this syndrome cannot be defined at present.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: L
authors.initials: L
authors.lastname: Manneschi
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: F
authors.initials: F
authors.lastname: Caznerale
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D002675:Child, Preschool; D002950:Citrate (si)-Synthase / Q000378:metabolism; D004576:Electromyography; D003576:Electron Transport Complex IV / Q000378:metabolism; D004734:Energy Metabolism / Q000502:physiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism* / Q000648:ultrastructure*; D017237:Mitochondrial Encephalomyopathies / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology*; D009132:Muscles / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology*; D009245:NADH Dehydrogenase / Q000378:metabolism; D009431:Neural Conduction / Q000502:physiology; D015518:Rett Syndrome / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology*; D014057:Tomography, X-Ray Computed
chemical_list: D009245:NADH Dehydrogenase; D003576:Electron Transport Complex IV; D002950:Citrate (si)-Synthase