Lysosomal glycogen storage disease without acid maltase deficiency
- 1 July 1983
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 33 (7) , 873
- https://doi.org/10.1212/wnl.33.7.873
Abstract
Two brothers with lysosomal glycogen storage disease without acid maltase deficiency in skeletal muscle were studied. Although no specific biochemical defect was identified, a characteristic clinical picture emerged from evaluation of these siblings and 2 other previously reported patients. The syndrome is manifested by proximal muscle weakness, hypertrophic cardiomyopathy, probable intellectual impairment and possible liver involvement.This publication has 10 references indexed in Scilit:
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