Journal
NEUROMUSCULAR DISORDERS
Volume 22, Issue 5, Pages 389-393Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2011.11.003
Keywords
Pompe disease; GAA; Globular inclusion; Acid phosphatase
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Funding
- Japan Society for the Promotion of Science
- Ministry of Health, Labor, and Welfare [20B-12, 20B-13]
- NCNP [23-4, 23-5]
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Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent. (C) 2011 Elsevier B.V. All rights reserved.
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