Spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder caused by homozygous deletion in the Survival Motor Neuron gene 1 (SMN1). While SMA is considered to be a lower motor neuron disease, increasing clinical and experimental reports indicate the involvement of additional peripheral organs in the pathogenesis of the disease. Vascular defects have been reported in some severe SMA infants and in transgenic mouse models of SMN deficiency. In this study, we have measured the expression of Vegf164 isoforms in SMA mice.
|Number of pages||1|
|Issue number||Suppl. 2|
|Publication status||Published - Oct 2015|
|Event||20th International Congress of the World-Muscle-Society - Brighton|
Duration: 30 Sept 2015 → 4 Oct 2015
- spinal muscular-atrophy
- Survival Motor Neuron gene 1