Article
Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.
Neuromuscular disorders : NMD - 1 May 1997
Talbot K, Rodrigues N R, Ignatius J, Muntoni F, Davies K E
Abstract excerpt
Autosomal recessive proximal spinal muscular atrophy (SMA) is a disease of motor neuron death and a common cause of morbidity in childhood. It has been mapped to 5q13 and shown to be associated with deletions in a gene which has been called the survival motor neuron (SMN) gene. SMN exists in two...
Topics
- Adolescent
- Adult
- Cell Survival
- Centromere
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Exons
- Gene Conversion
- Gene Deletion
- Humans
- Introns
- Motor Neurons
- Muscular Atrophy, Spinal
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Prognosis