Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance

Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which causes severe progressive hypotonia and muscular weakness. With a carrier frequency of 1 in 40–50 and an estimated incidence of 1...

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Detalles Bibliográficos
Autores principales: Keinath, Melissa C, Prior, Devin E, Prior, Thomas W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846873/
https://www.ncbi.nlm.nih.gov/pubmed/33531827
http://dx.doi.org/10.2147/TACG.S239603

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846873/
https://www.ncbi.nlm.nih.gov/pubmed/33531827
http://dx.doi.org/10.2147/TACG.S239603

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