@article{articlecb0e97f5, title = {Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease}, author = {Pedroso, José Luiz and Rocha, Clarissa R. R. and Macedo-Souza, Lucia I. and Mario, Vitor de and Marques Junior, Wilson and Barsottini, Orlando G. P. and Oliveira, Acary S. Bulle and Menck, Carlos Frederico Martins and Kok, Fernando}, year = {2015}, doi = {10.1212/NXG.0000000000000030}, journal = {Neurology: Genetics} }