Article
Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.
Current protocols in human genetics - 1 Jan 2016
Prior Thomas W, Nagan Narasimhan
Abstract excerpt
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and the most common genetic cause of infant mortality, affecting ∼1 in 10,000 live births. The disease is characterized by progressive symmetrical muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brain stem nuclei. The disease is classified on the basis of age of onset and...
Topics
- DNA Copy Number Variations
- DNA Mutational Analysis
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Molecular Diagnostic Techniques
- Muscular Atrophy, Spinal
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein