title: A patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency.
abstract: We report on a boy with normal mental development who had muscle hypotonia and congenital dislocation of the hip and knee joints. Histochemical and biochemical examinations of his muscle specimen revealed no succinate dehydrogenase (SDH) activity. Since the NADH cytochrome c reductase and cytochrome c oxidase activities were normal, we concluded that he had an isolated SDH deficiency. Our patient provides further evidence for the clinical variability of this disorder.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University, Yushima, 1-5-45, Bunkyo-ku, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Sugimoto
authors.forename: M
authors.initials: M
authors.lastname: Shimohira
authors.forename: Y
authors.initials: Y
authors.lastname: Osawa
authors.forename: M
authors.initials: M
authors.lastname: Matsubara
authors.forename: H
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D001706:Biopsy; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D007593:Joint Instability / Q000503:physiopathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D017240:Mitochondrial Myopathies / Q000503:physiopathology* / Q000523:psychology; D009123:Muscle Hypotonia / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology*; D013385:Succinate Dehydrogenase / Q000172:deficiency*
chemical_list: D013385:Succinate Dehydrogenase