Intracellular Signaling in Skeletal Muscle is Dysregulated in a Pre‐Clinical Model of Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality and the second most prevalent autosomal recessive disorder. SMA, which is caused by mutations in the survival motor neuron (SMN) gene, is a neuromuscular disorder (NMD) without a cure. Stimulation of key molecules that regulate skeletal muscle phenotype can be therapeutic in chronic diseases such as obesity and type 2 diabetes, as well as in some NMD contexts. …