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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...
Autores principales: | Ng, Kay W. P., Chin, Hui-Lin, Chin, Amanda X. Y., Goh, Denise Li-Meng |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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