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Article

Peripheral nerve and neuromuscular junction pathology in Pompe disease

12 Sept 2014

Abstract excerpt

Pompe disease is a systemic metabolic disorder characterized by lack of acid-alpha glucosidase (GAA) resulting in ubiquitous lysosomal glycogen accumulation. Respiratory and ambulatory dysfunction are prominent features in patients with Pompe yet the mechanism defining the development of muscle weakness is currently unclear. Transgenic animal models of Pompe disease mirroring the patient phenotype have been...

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PMID: 25217571
DOI: 10.1093/hmg/ddu476

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