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Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the de...
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| Publicado no: | Autops Case Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hospital Universitário da Universidade de São Paulo
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7703047/ https://ncbi.nlm.nih.gov/pubmed/33344277 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4322/acr.2020.157 |
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