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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Detalles Bibliográficos
Autores principales: Madakshira, Manoj Gopal, Singla, Sonal, Gupta, Kirti, Zahan, Sayeeda, Paria, Pradip, Sahu, Jitendra Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hospital Universitário da Universidade de São Paulo 2020
Materias:
Article / Autopsy Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7703047/
https://www.ncbi.nlm.nih.gov/pubmed/33344277
http://dx.doi.org/10.4322/acr.2020.157

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7703047/
https://www.ncbi.nlm.nih.gov/pubmed/33344277
http://dx.doi.org/10.4322/acr.2020.157

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