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Case Reports
. 2011 Mar;21(3):232-4.
doi: 10.1016/j.nmd.2010.11.016. Epub 2010 Dec 22.

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Linda E M van den Berg  1 , Juna M de Vries, Robert M Verdijk, Ans T van der Ploeg, Arnold J J Reuser, Pieter A van Doorn
Affiliations
Free article
Case Reports

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Linda E M van den Berg et al. Neuromuscul Disord. 2011 Mar.
Free article

Abstract

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.

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