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 language | English |
|---|---|
| Pages (from-to) | 300-305 |
| Number of pages | 6 |
| Journal | Neurology |
| Volume | 41 |
| Issue number | 2 |
| Publication status | Published - 1991 |
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ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology
- Neuroscience(all)
Cite this
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 journal › Article
}
TY - JOUR
T1 - Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy
T2 - An immunohistochemical approach
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.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0026064240&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026064240&partnerID=8YFLogxK
M3 - Article
C2 - 1846953
AN - SCOPUS:0026064240
VL - 41
SP - 300
EP - 305
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 2
ER -