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Sural nerve biopsy showing a Schwann cell with a cytoplasmic inclusion (2)

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Electron microscopic image of a sural nerve biopsy shows a Schwann cell with a cytoplasmic inclusion (yellow arrow). Biopsy findings are from a woman in her late 70s with an RFC1 mutation (biallelic ACAGG) and slowly progressive sensory autonomic neuropathy with mild motor deficit, moderate sensory impairment, and severe autonomic disturbance. (Source: Hirano M, Kuwahara M, Yamagishi Y, et al. CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy. Sci Rep 2023;13[1]:17801. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)