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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Bibliographic Details
Published in:Autops Case Rep
Main Authors: Madakshira, Manoj Gopal, Singla, Sonal, Gupta, Kirti, Zahan, Sayeeda, Paria, Pradip, Sahu, Jitendra Kumar
Format: Artigo
Language:Inglês
Published: Hospital Universitário da Universidade de São Paulo 2020
Subjects:
Article / Autopsy Case Report
Online Access: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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