Pompe disease (PD) or glycogen storage disorder type II is a rare autosomal recessive lysosomal storage disorder caused by acid alpha-glucosidase deficiency due to mutations in the GAA gene [1-3]. Lysosomal accumulation of glycogen in different organs and tissues, in particular in skeletal muscle fibres, impairs their structure and function [1, 3]. Late-onset Pompe disease (LOPD) is usually characterized by slowly progressive limb-girdle weakness and muscle atrophy, respiratory failure and/or hyperCKemia, – however, a wide range of phenotypes can be seen [2, 3].

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