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. 2021 Mar 2;96(9):e1369–e1382. doi: 10.1212/WNL.0000000000011528

Figure 4. Phenotypic Spectrum of RFC1 Disease.

Figure 4

Prevalence of signs, symptoms, and electrodiagnostic findings of 70 patients with biallelic RFC1 repeat expansions. Numerator and denominator in brackets indicate the number of affected patients and the number of patients assessed for this feature, respectively. CANVAS = cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; RFC1 = replication factor complex subunit 1.