Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis
Proximal spinal muscular atrophy (SMA) types I-IV is the most common autosomal recessive neuromuscular disease caused by mutations in the SMN1 gene encoding the survival motor neuron protein. It is characterized by progressive muscle weakness due to injury of the motor neurons of the anterior horns...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2015-02-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/55 |