The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

A rare SMN2 variant in a previously unre

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

✍ Myriam Vezain; Pascale Saugier-Veber; Elisa Goina; Renaud Touraine; Véronique Ma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 405 KB

Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by homozygous inactivation of the SMN1 (Survival Motor Neuron 1) gene. The disease severity is mainly influenced by the copy number of SMN2, a nearly identical gene from which only low amounts of full-length mRNA are produced. T