Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

BACKGROUND: Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome sequencing (WES) is introducing rapid changes on the genetic...

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Pubblicato in:Mol Genet Genomic Med
Autori principali: Tsang, Mandy H. Y., Chiu, Annie T. G., Kwong, Bernard M. H., Liang, Rui, Yu, Mullin H. C., Yeung, Kit‐San, Ho, Wetor H. L., Mak, Christopher C. Y., Leung, Gordon K. C., Pei, Steven L. C., Fung, Jasmine L. F., Wong, Virginia C. N., Muntoni, Francesco, Chung, Brian H. Y., Chan, Sophelia H. S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216811/
https://ncbi.nlm.nih.gov/pubmed/32154989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1205
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