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Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208460/ https://www.ncbi.nlm.nih.gov/pubmed/24970098 http://dx.doi.org/10.1093/brain/awu169 |