A 3‐month‐old female infant had profound generalized weakness, de Toni‐fanconi‐Debre syndrome, and lactic acidosis. She required asisted ventilation and died at the age of 8 months. Muscle biosy showed accumulated of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectabel and enzyme‐linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction. Copyright © 1985 the American Neurological Association

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

Zeviani M.;
1985

Abstract

A 3‐month‐old female infant had profound generalized weakness, de Toni‐fanconi‐Debre syndrome, and lactic acidosis. She required asisted ventilation and died at the age of 8 months. Muscle biosy showed accumulated of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectabel and enzyme‐linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction. Copyright © 1985 the American Neurological Association
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3354637
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 75
  • ???jsp.display-item.citation.isi??? 80
social impact