Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

OBJECTIVE: Molecular genetic testing for hereditary neuromuscular disorders is increasingly used to identify disease subtypes, determine prevalence, and inform management and prognosis, and although many small disease-specific studies have demonstrated the utility of genetic testing, comprehensive d...

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Detalles Bibliográficos
Autores principales: Winder, Thomas L., Tan, Christopher A., Klemm, Sarah, White, Hannah, Westbrook, Jody M., Wang, James Z., Entezam, Ali, Truty, Rebecca, Nussbaum, Robert L., McNally, Elizabeth M., Aradhya, Swaroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164976/
https://www.ncbi.nlm.nih.gov/pubmed/32337338
http://dx.doi.org/10.1212/NXG.0000000000000412

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164976/
https://www.ncbi.nlm.nih.gov/pubmed/32337338
http://dx.doi.org/10.1212/NXG.0000000000000412

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