Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions

I M Shepherd; M A Birch-Machin; M A Johnson; H S Sherratt; A Aynsley-Green; M Droste; B Kadenbach; J B Stephenson; M D King; D J Dick

doi:10.1016/0022-510x(88)90251-1

Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions

J Neurol Sci. 1988 Nov;87(2-3):265-74. doi: 10.1016/0022-510x(88)90251-1.

Authors

I M Shepherd¹, M A Birch-Machin, M A Johnson, H S Sherratt, A Aynsley-Green, M Droste, B Kadenbach, J B Stephenson, M D King, D J Dick, et al.

Affiliation

¹ Department of Neurology, University of Newcastle upon Tyne, U.K.

PMID: 2850350
DOI: 10.1016/0022-510x(88)90251-1

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Cytochrome-c Oxidase Deficiency*
Demyelinating Diseases / enzymology*
Electron Transport Complex IV / immunology
Female
Humans
Mitochondria, Muscle / enzymology*

Substances

Electron Transport Complex IV