Using gene panels in the diagnosis of neuromuscular disorders: A mini-review

The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and phenotypic variability. Traditionally, neurophysiology and histopathology were primarily used in the initial diagnostic approach to these conditions. Sanger sequencing for molecular diagnosis was less frequent...

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Detalles Bibliográficos
Autores principales: Ng, Kay W. P., Chin, Hui-Lin, Chin, Amanda X. Y., Goh, Denise Li-Meng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602396/
https://www.ncbi.nlm.nih.gov/pubmed/36313509
http://dx.doi.org/10.3389/fneur.2022.997551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602396/
https://www.ncbi.nlm.nih.gov/pubmed/36313509
http://dx.doi.org/10.3389/fneur.2022.997551

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