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251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

Published:January 22, 2021DOI:https://doi.org/10.1016/j.nmd.2021.01.010
      The organizers of the 251st ENMC workshop welcomed 22 participants including a patient representative and three industry representatives from European countries, Israel and the United States of America to the first workshop on polyglucosan storage myopathies, which are a group of glycogen storage diseases with aggregation of polyglucans that resemble glycogen, but are less branched. Polyglucosan is an amylopectin-like polysaccharide associated with defective glycogen metabolism and, unlike normal glycogen, it is to some extent resistant to α-amylase digestion. It has a characteristic, partly filamentous appearance under the electron microscope. Polyglucosan may aggregate into dense inclusions known as polyglucosan bodies. Its accumulation can be found in various tissues and to some degree in normal aging, but it is also the hallmark of some diseases associated with defects in glycogen metabolism. These diseases frequently involve both skeletal and cardiac muscle tissue, causing myopathy with muscle weakness and wasting and cardiomyopathy with arrhythmia, conduction block, and cardiac failure. Although the diseases have the muscle polyglucosan storage in common, some of them also affect other tissues such as the brain, which in some cases cause the main symptoms.
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