Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041723 | Neuromuscular Disorders | 2012 | 5 Pages |
Abstract
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.
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Authors
Rie S. Tsuburaya, Kazunari Monma, Yasushi Oya, Takahiro Nakayama, Tokiko Fukuda, Hideo Sugie, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino,