Article
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.
Human mutation - 1 Jan 2010
Vezain Myriam, Saugier-Veber Pascale, Goina Elisa, Touraine Renaud, Manel Véronique, Toutain Annick, Fehrenbach Séverine, Frébourg Thierry, Pagani Franco, Tosi Mario, Martins Alexandra
Abstract excerpt
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. This correlation is not absolute, suggesting the existence of yet unknown factors modulating disease progression. We...
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