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Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in...
Guardat en:
| Publicat a: | J Cell Mol Med |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley & Sons, Ltd
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4568910/ https://ncbi.nlm.nih.gov/pubmed/26095024 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.12606 |
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