Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Rodrigo de Holanda MendonçaCiro MatsuiGraziela Jorge PolidoAndré Macedo Serafim SilvaLeslie Domenici KulikowskiAlexandre Torchio DiasEvelin Aline ZanardoDavi Jorge Fontoura SollaJuliana Gurgel-GiannettiAna Carolina Monteiro Lessa de MouraGabriela Palhares Campolina SampaioAcary Souza Bulle OliveiraPaulo Victor Sgobbi de SouzaWladimir Bocca Vieira de Rezende PintoEduardo Augusto GonçalvesIgor Braga FariasFlávia NardesAlexandra Prufer de Queiroz Campos AraújoWilson MarquesPedro José TomaselliMara Dell Ospedale RibeiroJoão Paulo KitajimaFabíola Paoli MonteiroJonas Alex Morales SauteMichele Michelin BeckerMaria Luiza Saraiva-PereiraAna Carolina Brusius-FacchinVanessa van der LindenRodrigo Neves FlorêncioAndré Vinícius Soares BarbosaMarcela Câmara Machado-CostaAndré Luiz Santos PessoaLeticia Silva SouzaMarcondes Cavalcante FrancaFernando KokUmbertina Conti ReedEdmar ZanoteliPublished in: Neurology. Genetics (2020)
Patients with specific pathogenic variants (c.460C>T and c.5C>G) presented a milder phenotype, and the SMN2 copy number did not correlate with disease severity in this group.