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H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Bresolin, Zeviam, Bonilla, Shanske, Nakagawa, and DiMauro), Columbia University College of Physicians and Surgeons; the Department of Neuroscience (Dr. Leech), University of North Dakota, School of Medicine; and St. Lukes Hospitals (Dr. Miller), Fargo, ND.
A 2-month-old boy had progressive generalized weakness, hypotonia, and respiratory insufficiency requiring assisted ventilation. At age 31/2 months, he started having seizures and recurrent pulmonary infections; he died at age 7 months. Serum lactate was chronically elevated, but there was no aminoaciduria. Histochemical and ultrastructural studies of muscle biopsies at ages 2 and 3 months showed excessive mitochondria, lipid, and glycogen; a third biopsy at 6 months showed marked increase in perimysial fibrous and fat tissue. Cytochrome c oxidase activity was 7% of normal in the first biopsy and undetectable in the others. Cytochrome spectra of mitochondria isolated from postmortem muscle showed complete lack of cytochrome aa3 Antibodies were obtained against cytochrome c oxidase purified from normal human heart. Immunotitration and enzyme-linked immunosorbent assay (ELISA) showed decreased immunologically reactive enzyme protein in the patient's muscle, but SDS-PAGE electrophoresis of immunoprecipitates of muscle mitochondrial extracts showed the presence of all cytochrome c oxidase subunits. These data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle.
Address correspondence and reprint requests to Dr. DiMauro, 4–420. College of Physicians and Surgeons, 630 W. 168th Street, New York, NY 10032.
Supported by Center Grants NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke and from the Muscular Dystrophy Association, and by Grant AM-25500 from the National Institute of Arthritis, Diabetes and Kidney Diseases. Drs. Bresolin and Zeviani are recipients of postdoctoral research fellowships from the Muscular Dystrophy Association.
Presented In part at the thirty-sixth annual meeting of the American Academy of Neurology, Boston, MA, April 1984.
Accepted for publication September 27, 1984.
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