title: Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions.
abstract: We report a 2-year-old girl who presented with delayed development, weakness and persistent vomiting. She had a demyelinating peripheral neuropathy. The activity of cytochrome oxidase in skeletal muscle from the patient was 10% of controls. Immunochemical studies using antibodies to holo-cytochrome oxidase and the individual subunits showed a low concentration of all detectable subunits.
authors.affiliation: Department of Neurology, University of Newcastle upon Tyne, U.K.
authors.forename: I M
authors.initials: IM
authors.lastname: Shepherd
authors.forename: M A
authors.initials: MA
authors.lastname: Birch-Machin
authors.forename: M A
authors.initials: MA
authors.lastname: Johnson
authors.forename: H S
authors.initials: HS
authors.lastname: Sherratt
authors.forename: A
authors.initials: A
authors.lastname: Aynsley-Green
authors.forename: M
authors.initials: M
authors.lastname: Droste
authors.forename: B
authors.initials: B
authors.lastname: Kadenbach
authors.forename: J B
authors.initials: JB
authors.lastname: Stephenson
authors.forename: M D
authors.initials: MD
authors.lastname: King
authors.forename: D J
authors.initials: DJ
authors.lastname: Dick
mesh_terms: D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D003711:Demyelinating Diseases / Q000201:enzymology*; D003576:Electron Transport Complex IV / Q000276:immunology; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000201:enzymology*
chemical_list: D003576:Electron Transport Complex IV