Article
The role of the SMN gene in proximal spinal muscular atrophy.
Human molecular genetics - 1 Jan 1998
Lefebvre S, Bürglen L, Frézal J, Munnich A, Melki J
Abstract excerpt
Childhood spinal muscular atrophy (SMA) is a common recessive autosomal disorder that results in degeneration of lower motor neurons. The identification of the disease gene, Survival of Motor Neuron (SMN), was a major advance in understanding the molecular basis underlying this devastating neurom...
Topics
- Animals
- Cyclic AMP Response Element-Binding Protein
- Humans
- Infant
- Infant, Newborn
- Mutation
- Nerve Tissue Proteins
- Phenotype
- RNA
- RNA Processing, Post-Transcriptional
- RNA-Binding Proteins
- Ribonucleoproteins, Small Nuclear
- SMN Complex Proteins
- Spinal Muscular Atrophies of Childhood
- Spliceosomes