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NEUROLOGY 1983;33:873
© 1983 American Academy of Neurology

Lysosomal glycogen storage disease without acid maltase deficiency

Jack E. Riggs, MD, Sydney S. Schochet, Jr, MD, Ludwig Gutmann, MD, Sara Shanske, PhD, William A. Neal, MD and Salvatore DiMauro, MD

Departments of Neurology (Drs. Riggs and Gutmann), Pathology (Dr. Schochet), and Pediatrics (Dr. Neal), West Virginia University School of Medicine, Morgantown, WV, and the Department of Neurology (Drs. Shanske and DiMauro), College of Physicians and Surgeons, Columbia University, New York, NY.

We studied two brothers with lysosomal glycogen storage disease without acid maltase deficiency in skeletal muscle. Although no specific biochemical defect was identified, a characteristic clinical picture emerged from evaluation of these siblings and two other previously reported patients. The syndrome is manifested by proximal muscle weakness, hypertrophic cardiomyopathy, probable intellectual impairment, and possible liver involvement.

Address correspondence to Dr. Riggs, Department of Neurology, West Virginia University Medical Center, Morgantown, WV 26506.

Presented in part at the thirty-fourth annual meeting of the American Academy of Neurology, April 1982, Washington, DC.

Accepted for publication November 16, 1982.




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