Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
Abstract Background Spinal muscular atrophy (SMA) is mostly caused by homozygous deletions in the survival motor neuron 1 (SMN1) gene.SMN2, its paralogous gene, is a genetic modifier of the disease phenotype, and its copy number is correlated with SMA severity.The purpose of the study was to investigate the number of copies of the SMN1 and SMN2 gen