Article
Spinal muscular atrophy: untangling the knot?
Journal of medical genetics - 1 Jan 1999
Biros I, Forrest S
Abstract excerpt
Spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of neuromuscular diseases, is a disorder of motor neurones characterised by degeneration of spinal cord anterior horn cells and muscular atrophy. SMA is an autosomal recessive disorder with a carrier frequency of abou...
Topics
- Autoantigens
- Chromosomes, Human, Pair 5
- Gene Dosage
- Gene Expression
- Genotype
- Humans
- Models, Genetic
- Muscular Atrophy, Spinal
- Mutation, Missense
- Nerve Tissue Proteins
- Neuronal Apoptosis-Inhibitory Protein
- Phenotype
- Point Mutation
- Ribonucleoproteins, Small Nuclear
- snRNP Core Proteins