Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

Abstract excerpt

Abstract Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is defined as modifying effect. In this study, we aim to investigate the expression of modifying genes related to the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA modifications and cancer
• Share to RNA Research and Splicing