Decreasing Disease Severity in Symptomatic, <i>Smn</i> ^−/− ; <i>SMN2</i> ^+/+ , Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery

Abstract excerpt

Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the leading genetic cause of infant mortality. SMA is caused by the homozygous loss of Survival Motor Neuron-1 (SMN1). In humans, a nearly identical copy gene is present, SMN2. SMN2 is retained in all SMA patients and encodes the same protein as SMN1. However, SMN1 and SMN2 differ by a silent C-to-T transition at the 5’ end of exon...

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