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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Dettagli Bibliografici
Pubblicato in:Autops Case Rep
Autori principali: Madakshira, Manoj Gopal, Singla, Sonal, Gupta, Kirti, Zahan, Sayeeda, Paria, Pradip, Sahu, Jitendra Kumar
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hospital Universitário da Universidade de São Paulo 2020
Soggetti:
Article / Autopsy Case Report
Accesso online: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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