Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions.
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.
Shepherd
I M
IM
Department of Neurology, University of Newcastle upon Tyne, U.K.
Birch-Machin
M A
MA
Johnson
M A
MA
Sherratt
H S
HS
Aynsley-Green
A
A
Droste
M
M
Kadenbach
B
B
Stephenson
J B
JB
King
M D
MD
Dick
D J
DJ
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*
D003576:Electron Transport Complex IV