Multisystemic RFC1-Related Disorder

Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Maria João Malaquias, Luis Braz, Cláudia Santos Silva, Joana Damásio, André Jorge, João M. Lemos, Catarina F. Campos, Daniela Garcez, Miguel Oliveira Santos, Ana G. Velon, André Caetano, Margarida Calejo, Preza Fernandes, Ângela Rego, Sandra Castro, Ana P. Sousa, Marcio Neves Cardoso, Marco Fernandes, Miguel M. Pinto, Ricardo Taipa, Ana M. Lopes, Jorge Oliveira, Marina Magalhães, for RFC1 Repeat Expansion National Study Group

Neurol Clin Pract Oct 2023, 13 (5) e200190; DOI: 10.1212/CPJ.0000000000200190