Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.

Abstract

To differentiate the 2 major myopathies of infancy due to cytochrome c oxidase (COX) deficiency, we studied muscle biopsies from 4 patients with fatal myopathy and 4 with benign myopathy using biochemical, histochemical, and immunohistochemical techniques. Immunohistochemistry with antibodies directed against individual subunits of COX differentiated the 2 phenotypes: the fatal infantile myopathy was characterized by absence of the nuclear DNA (nDNA)-encoded subunit VIIa,b of COX, while in the benign myopathy both VIIa,b and the mitochondrial DNA (mtDNA)-encoded subunit II were absent. Early differential diagnosis between fatal and benign COX-deficient myopathies is of critical importance for prognosis and management of these infants, because the benign form is initially life-threatening but ultimately reversible.

• Authors: H J Tritschler, E Bonilla, A Lombes, F Andreetta, S Servidei, B Schneyder, A F Miranda, E A Schon, B Kadenbach, S DiMauro
• Journal: Neurology (Neurology) Vol. 41 Issue 2 ( Pt 1) Pg. 300-5 (Feb 1991) ISSN: 0028-3878 [Print] United States
• PMID: 1846953 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Electron Transport Complex IV

Topics

• Biopsy
• Cytochrome-c Oxidase Deficiency
• Diagnosis, Differential
• Electron Transport Complex IV (metabolism)
• Histocytochemistry
• Humans
• Immunohistochemistry (methods)
• Infant, Newborn
• Muscular Diseases (enzymology, mortality, pathology)