Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron gene (SMN1) and retention of the SMN2 gene. The copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype. While loss of mouse Smn is embryonic lethal, two copies of SMN2 prevents this embryonic lethality resulting in a mouse with severe SMA that dies 5 days after birth. Here we show that...

Topics

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

• Share to Congenital Anomalies and Fetal Surgery
• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA modifications and cancer