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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Figure 1

Cryostatic sections of vastus lateralis muscle biopsies. A) HE, with muscle fibres showing vacuoles of variable size, the vast majority of which contain PAS (B) and acid phosphatase (C) positive material. The muscle biopsy of the sibling II-8 disclosed peculiar microscopic changes consisting in thin gaps surrounding paracentral nuclei (D, Gomori, arrows) at level of which PAS (E, asterisk) and to a lesser extent acid phosphate (F, arrowhead) positive deposits were seen in some fibres. (Upper series 10×; lower series 20×).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172