Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report

por Landim, João Igor Dantas, Ribeiro, Ian Silva, Oliveira, Eduardo Braga, Freitas, Hermany Capistrano, Brito, Lara Albuquerque, Maia, Isaac Holanda Mendes, Távora, Daniel Gurgel Fernandes, Rodrigues, Cleonisio Leite
Publicado 2023