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Spinal Muscular Atrophy: Present State
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by homozygous deletions or mutations in the SMN1 gene on Chr.5q13. SMA spans from severe Werdnig‐Hoffmann disease (SMA 1) to relatively benign Kugelberg‐Welander disease (SMA 3). Onset before birth possibly aggravates the...
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| Gepubliceerd in: | Brain Pathol |
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| Hoofdauteurs: | , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Blackwell Publishing Ltd
2006
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8098133/ https://ncbi.nlm.nih.gov/pubmed/11303798 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2001.tb00395.x |
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