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

Research output: Contribution to journalArticle

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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Muscular Diseases
Electron Transport Complex IV
Differential Diagnosis
Oxidoreductases
Cytochrome-c Oxidase Deficiency
Mitochondrial DNA
Phenotype
Infancy
Early Diagnosis
Immunohistochemistry
Biopsy
Muscles
Antibodies
DNA

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., ... Dimauro, S. (1991). Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: An immunohistochemical approach. Neurology, 41(2), 300-305.

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy : An immunohistochemical approach. / Tritschler, H. J.; Bonilla, E.; Lombes, A.; Andreetta, F.; Servidei, S.; Schneyder, B.; Miranda, A. F.; Schon, E. A.; Kadenbach, B.; Dimauro, S.

In: Neurology, Vol. 41, No. 2, 1991, p. 300-305.

Research output: Contribution to journalArticle

Tritschler, HJ, Bonilla, E, Lombes, A, Andreetta, F, Servidei, S, Schneyder, B, Miranda, AF, Schon, EA, Kadenbach, B & Dimauro, S 1991, 'Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: An immunohistochemical approach', Neurology, vol. 41, no. 2, pp. 300-305.
Tritschler, H. J. ; Bonilla, E. ; Lombes, A. ; Andreetta, F. ; Servidei, S. ; Schneyder, B. ; Miranda, A. F. ; Schon, E. A. ; Kadenbach, B. ; Dimauro, S. / Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy : An immunohistochemical approach. In: Neurology. 1991 ; Vol. 41, No. 2. pp. 300-305.
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AU - Tritschler, H. J.

AU - Bonilla, E.

AU - Lombes, A.

AU - Andreetta, F.

AU - Servidei, S.

AU - Schneyder, B.

AU - Miranda, A. F.

AU - Schon, E. A.

AU - Kadenbach, B.

AU - Dimauro, S.

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