NewslettersMuscle Cell NewsSNUPN Deficiency Causes a Recessive Muscular Dystrophy Due to RNA Mis-Splicing and ECM DysregulationBy Noshin Noorjahan - February 29, 2024061The authors demonstrated that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines.[Nature Communications]Full Article