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From the Departments of Neurology (Dr. Danon), Pathology (Dn. Danon and Manaligod), and Biological Chemistry (Dr. Schliselfeld), University of Illinois Medical Center, Chicago, IL, the Department of Neurology (Dr. Oh), University of Alabama Medical Center, Birmingham, AL, the Departments of Neurology (Dr. DiMauro) and Anatomy (Dr. Eastwood), College of Physicians and Surgeons, Columbia University, New York, NY, and the Department of Neurology (Dr. Naidu), Loyola University, Stritch School of Medicine, Chicago, IL.
Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.
Address correspondence and reprint requests to Dr. Danon, Department of Neurology, Abraham Lincoln School of Medicine, University of Illinois at the Medical Center, P.O. Box 6998, Chicago, IL 60680.
This study was supported in part by the Muscular Dystrophy Association of America.
Presented in part at the fourth International Congress on Neuromuscular Diseases, Montreal, Canada, September 1978.
Accepted for publication March 11, 1980.
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