Journal
NEUROMUSCULAR DISORDERS
Volume 21, Issue 3, Pages 232-234Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.11.016
Keywords
Muscle pathology; Muscle fiber type; Fatigue; Lysosomal storage disease; Glycogenosis type II
Categories
Funding
- Prinses Beatrix Fonds [OP07-08]
- ZonMw-the Netherlands Organisation for Health Research and Development [152001005]
- European Union [201678]
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We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy. (C) 2010 Elsevier B.V. All rights reserved.
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