Publication details
Analysis of SMN gene regions in patients with spinal muscular atrophy
| Authors | |
|---|---|
| Year of publication | 2005 |
| Type | Article in Proceedings |
| Conference | Functional genomics and disease |
| MU Faculty or unit | |
| Citation | |
| web | http://www.esffg2005.org |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | SMA; SMN1; SMN2; copy number |
| Description | Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, characterized by the loss of motor neurons in the spinal cord, leading to proximal, symetrical limb, and trunk muscle weakness. The gene implicated in SMA is the survival motor neuron gene (SMN) located on chromosome 5q13. In humans, the SMN gene is duplicated, occurrings as the telomeric (SMN1) and centromeric copy (SMN2). Both genes encode the SMN protein but due to alternative splicing the SMN2 genes produce only low levels of functional protein. Homozygous SMN1 deletions were found in ca 95% of SMA cases. |
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