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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

Figure 4

Pathological features of the muscle in patient UPN5248 with myopathic syndrome. (A) Serial skeletal muscle sections of biopsy from patient 1 showed mild variation in fiber size (HE = hematoxylin and eosin stain) and type 1 muscle fiber predominance (ATPase 9.40). With oxidative enzyme reactions (NADH, COX), the mesh of the intermyofibrillar network appeared thickened and slightly clumped, especially in type 2 fibers, which exhibit mainly glycolytic metabolism. (B) Skeletal muscle section of a biopsy from patient stained with PAS stain, showing intense coloration in all muscle fibers.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172