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 d...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
University of São Paulo
2021-07-01
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Series: | Autopsy and Case Reports |
Subjects: | |
Online Access: | https://www.revistas.usp.br/autopsy/article/view/188072 |