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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Fig. 2

Imaging and neuropathological features of family 1. MRI of calf skeletal muscles (Axial T2W1-STIR) in proband IV-9 exhibited slight fatty infiltration in the bilateral anterior tibial muscle and extensor hallucis longus, and distinct fatty infiltration in the gastrocnemius muscles (a). Her son V-3 displayed almost normal muscle morphology (b). MRI of nerves (Coronal 3D-STIR) showed atrophy of cervical nerve roots and brachial plexus in proband IV-9 (d) and patient V-3 (e). Musculus hematein eosin section of proband IV-9 revealed neurogenic abnormalities with small angular atrophic muscle fibers distributed in clusters (f, black arrow). Electron microscope micrographs of sural nerve showed a regenerative cluster composed of small myelinated fibers (g, black arrow) and occasional atypical onion bulb (h)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172