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Benign reversible muscle cytochrome c oxidase deficiency

A second case

Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Zeviani, Servidei, Bonilla, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; and the Department of Neurology (Dr. Peterson), Wayne State University, Detroit, MI.

A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX) activity was 11% of the lowest control in the first biopsy and 57% in the second. Immunocytochemistry and immunotitration showed presence of immunologically reactive enzyme protein in both biopsies. This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency. The severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child.

Address correspondence and reprint requests to Dr. DiMauro, 4–420 College of Physicians and Surgeons, 630 West 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. Dr. Zeviani is supported by a postdoctoral research fellowship from the Muscular Dystrophy Association and Dr. Servidei by a fellowship from the Unione Italiana Lotta contro la Distrofia Muscolare (UILDM), Sezione Laziale "Giulia Testore."

Received April 14, 1986. Accepted for publication April 14, 1986.

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