@article{articlebb9df2da, title = {Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil}, author = {Estephan, Eduardo de Paula and Zambon, Antonio Alberto and Marchiori, Paulo Euripedes and Silva, Andre Macedo Serafim da and Caldas, Vitor Marques and Moreno, Cristiane Araujo Martins and Reed, Umbertina Conti and Horvath, Rita and Topf, Ana and Lochmueller, Hanns}, year = {2018}, doi = {10.1016/j.nmd.2018.08.007}, journal = {Neuromuscular disorders} }