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Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy...
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| Izdano u: | J Neuromuscul Dis |
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| Glavni autori: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
IOS Press
2018
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6004919/ https://ncbi.nlm.nih.gov/pubmed/29614695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-180304 |
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