Article
Spinal muscular atrophy: a timely review.
Archives of neurology - 1 Aug 2011
Kolb Stephen J, Kissel John T
Abstract excerpt
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of motor neurons in the anterior horn of the spinal cord and resultant weakness. The most common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA associated with mutations in the survival of motor neurons (SMN1) gene. Relentless progress during the past 15 years in the understanding of the molecular...
Topics
- Animals
- Disease Models, Animal
- Genetic Predisposition to Disease
- Genetic Therapy
- History, 19th Century
- History, 20th Century
- History, 21st Century
- Humans
- Muscular Atrophy, Spinal
- Mutation
- Survival of Motor Neuron 1 Protein