TY - JOUR
T1 - Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency
T2 - Immunological studies in a new patient
AU - Zeviani, M.
AU - Nonaka, I.
AU - Bonilla, E.
AU - Okino, E.
AU - Moggio, M.
AU - Jones, S.
AU - DiMauro, S.
PY - 1985
Y1 - 1985
N2 - A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable 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 muscles of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction.
AB - A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable 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 muscles of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction.
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U2 - 10.1002/ana.410170422
DO - 10.1002/ana.410170422
M3 - Article
C2 - 2988412
AN - SCOPUS:0021856785
VL - 17
SP - 414
EP - 417
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 4
ER -