Diagnostic NGS for Severe Neuromuscular Disorders
DOI:
https://doi.org/10.15844/pedneurbriefs-29-11-1Keywords:
Next-Generation-Sequencing, Novel Genes, Neuromuscular DisordersAbstract
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.Published
2015-12-17
Issue
Section
Neuromuscular Disorders
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