33 Holanda Mendonça Holanda Mendonça R R Matsui Matsui C C Polido Polido GJ GJ Serafim Silva Serafim Silva AM AM Kulikowski Kulikowski L L Dias Dias AT AT Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy Neurol Genet Neurol Genet 2020 2020 6 6 e505 e505 10.1212/NXG.0000000000000505 10.1212/NXG.0000000000000505 33062891 33062891. This evidence concerns the gene SMN1 and proximal spinal muscular atrophy.