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Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which causes severe progressive hypotonia and muscular weakness. With a carrier frequency of 1 in 40–50 and an estimated incidence of 1...
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| Publicado no: | Appl Clin Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7846873/ https://ncbi.nlm.nih.gov/pubmed/33531827 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S239603 |
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