METABOLIC MYOPATHIES II

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Pompe disease is caused by mutations in the acid alpha-glucosidase gene (GAA) that is responsible for processing lysosomal glycogen. Patients with Pompe disease exhibit clinical phenotypes across a variety of tissues, including glycogen buildup in cells, deficits in cardiac, respiratory, and skeletal muscle function, and CNS pathology. We proposed that optimal multi-tissue expression driven by a single gene transfer vector may address the deficits that have been refractory to enzyme replacement therapy and promote immune tolerance to hGAA.

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