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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...

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Detalhes bibliográficos
Principais autores: Kay W. P. Ng, Hui-Lin Chin, Amanda X. Y. Chin, Denise Li-Meng Goh
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-10-01
coleção:Frontiers in Neurology
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Acesso em linha:https://www.frontiersin.org/articles/10.3389/fneur.2022.997551/full
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