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Glycogen and glycogenin-1 in serial sections of the heart in patient 5 with expression of mutated glycogenin-1. A, Endomyocardial biopsy showing abnormal accumulation of periodic acid–Schiff (PAS)-positive material (arrow) in the central part of each cardiomyocyte, corresponding to glycogen and polyglucosan. B, The central inclusions of PAS-positive material stained strongly positive for glycogenin-1 by immunohistochemistry (arrow).
