Abstract
Muscle biopsies from four infants with fatal myopathy and four with benign myopathy were examined using biochemical, histochemical and immunohistochemical techniques in the Departments of Neurology, Pathology and Genetics, Columbia University, New York; Universita Cattolica del Sacro Cuore, Rome, Italy; and Fachbereich Chemie, Philipps-Universitat, Marburg, Germany.
Highlights
Muscle biopsies from four infants with fatal myopathy and four with benign myopathy were examined using biochemical, histochemical and immunohistochemical techniques in the Departments of Neurology, Pathol¬
At early stages the clinical picture failed to provide clues for differential diagnosis; both fatal and benign myopathies presented with hypotonia, generalized weakness, lactic acidosis, failure to thrive and severe respiratory insufficien¬
Inmunohistochemistry of COK-II should suffice for differential diagnosis because this subunit was present in the fatal myopathy but absent in the early stages of the benign myopathy
Summary
Muscle biopsies from four infants with fatal myopathy and four with benign myopathy were examined using biochemical, histochemical and immunohistochemical techniques in the Departments of Neurology, Pathol¬. Chemical studies of mitochondrial metabolism in the muscle are advisable in children with progressive weakness and exercise intolerance when a precise diagnosis is unclear. FATAL AND BENIGN CONGENITAL MYOPATHIES: DIFFERENTIAL DIAGNOSIS
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