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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...
Shranjeno v:
| izdano v: | Autops Case Rep |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hospital Universitário da Universidade de São Paulo
2020
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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