Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Malaquias MJ, Braz L, Santos Silva C, Damásio J, Jorge A, Lemos JM, Campos CF, Garcez D, Oliveira Santos M, Velon AG, Caetano A, Calejo M, Fernandes P, Rego Â, Castro S, Sousa AP, Cardoso MN, Fernandes M, Pinto MM, Taipa R, Lopes AM, Oliveira J, Magalhães M; for RFC1 Repeat Expansion National Study Group.