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

H. J. Tritschler, E. Bonilla, A. Lombes, F. Andreetta, S. Servidei, B. Schneyder, A. F. Miranda, E. A. Schon, B. Kadenbach, S. Dimauro

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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.

Original languageEnglish
Pages (from-to)300-305
Number of pages6
JournalNeurology
Volume41
Issue number2
Publication statusPublished - 1991

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ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Tritschler, H. J., Bonilla, E., Lombes, A., Andreetta, F., Servidei, S., Schneyder, B., Miranda, A. F., Schon, E. A., Kadenbach, B., & Dimauro, S. (1991). Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: An immunohistochemical approach. Neurology, 41(2), 300-305.