Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease - Pedroso, José Luiz; Rocha, Clarissa R. R.; Macedo-Souza, Lucia I.; Mario, Vitor de; Marques Junior, Wilson; Barsottini, Orlando G. P.; Oliveira, Acary S. Bulle; Menck, Carlos Frederico Martins; Kok, Fernando (Neurology: Genetics, 2015)