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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Figure 3

Histopathological findings of the distal sural nerve of the patient. (A) Toluidine blue-stained semi-thin transverse section revealed loss of large MFs and remaining medium- and small-sized MFs with rarely noted regenerating axonal clusters and unmyelinated axons with suggestive clustering and atrophy. (B) Histogram showing unimodal distribution pattern of myelinated fibers. (C and D) Electron micrographs showed axonal atrophy, rare axonal clustering, occasional focal folding of myelin, and increased collagen deposition in the endoneurium. (E) Immunohistochemical study with anti-PLEKHG5 antibody showed a focal positive reaction in the patient’s Schwann cell nuclei. (F) Comparison with diffuse strong positive reaction in axons and Schwann cell nuclei in the control case (original magnification: A, ×400; C, ×3000, D, ×8000, E and F, ×400).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172