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Glycogen is a soluble branched glucose polymer. The EPM2A gene encodes the glycogen phosphatase laforin and EPM2B encodes the E3 ubiquitin ligase malin. Mutations in EPM2A or EPM2B result in aberrant, hyperphosphorylated (red circles) glycogen inclusions. This abnormal, less soluble glycogen aggregates to form the Lafora bodies that cause neurodegeneration, epilepsy, and Lafora disease.
