Article
Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Dec 2020
Lefebvre S, Sarret C
Abstract excerpt
Autosomal-recessive spinal muscular atrophy (SMA) is characterized by the loss of specific motor neurons of the spinal cord and skeletal muscle atrophy. SMA is caused by mutations or deletions of the survival motor neuron 1 (SMN1) gene, and disease severity correlates with the expression levels of the nearly identical copy gene, SMN2. Both genes ubiquitously express SMN protein, but SMN2 generates only low levels...
Topics
- Animals
- Biomarkers
- Genetic Markers
- Genetic Therapy
- Humans
- Mutation
- Neuromuscular Agents
- RNA
- Spinal Muscular Atrophies of Childhood
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein