Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis - Bevilacqua, Jorge Alfredo; Al-Salti, Abdullah Mohammed; Al Madani, Abubaker; Alves da Fonseca, Armando; Durmus, Hacer; Chai, Josiah; Alshehri, Ali; Ribeiro, Márcia Gonçalves; Sgobbi, Paulo; Nikitin, Sergey S.; Vargas, Steven; Furtado, Adriana; et al. (Frontiers in Genetics, 2024)