SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment. Although genetic testing provides a definitive molecular diagnosis that can facilitate access to effective treatments, limited...

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Detalles Bibliográficos
Autores principales: Bowen, B. Monica, Truty, Rebecca, Aradhya, Swaroop, Bristow, Sara L., Johnson, Britt A., Morales, Ana, Tan, Christopher A., Westbrook, M. Jody, Winder, Thomas L., Chavez, Juan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8134668/
https://www.ncbi.nlm.nih.gov/pubmed/34025568
http://dx.doi.org/10.3389/fneur.2021.663911

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8134668/
https://www.ncbi.nlm.nih.gov/pubmed/34025568
http://dx.doi.org/10.3389/fneur.2021.663911

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