Spinal muscular atrophy: Advances in research and consensus on care of patients
โ Scribed by Ching H. Wang; Mitchell R. Lunn
- Book ID
- 107558977
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 272 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1092-8480
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๐ SIMILAR VOLUMES
## Abstract ## Objective Spinal muscular atrophy results from loss of the survival motor neuron 1 (__SMN1__) gene and malfunction of the remaining __SMN2__. We investigated whether valproic acid can elevate human __SMN__ expression in vivo. ## Methods Blood was collected from 10 spinal muscular
## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter