Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
Abstract Background Spinal muscular atrophy (SMA) Digital Picture Frame 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