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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Bibliografske podrobnosti

Principais autores:	Kay W. P. Ng, Hui-Lin Chin, Amanda X. Y. Chin, Denise Li-Meng Goh
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2022-10-01
Serija:	Frontiers in Neurology
Teme:	neuromuscular disorders next-generation sequencing gene panels genetic testing diagnosis precision medicine
Online dostop:	https://www.frontiersin.org/articles/10.3389/fneur.2022.997551/full
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