Skip to main content
Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

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

Fig. 3

Imaging and neuropathological features of family 2. T1-weighted axial and mid-sagittal in Brain MRI showed a large occipital cistern cyst and severe hypoplasia of the cerebellum (a–c). Transverse semi-thin section of sural nerve revealed multifocal loss of large myelinated nerve fibers with increased thin myelinated fibers; regenerative clusters (black arrowhead) and axonal degeneration (thin arrow) were seen (d). Electron microscope micrographs in a low power view showed a regenerative cluster (e, black arrowhead)

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172