Diagnostic NGS for Severe Neuromuscular Disorders

Abstract

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.

Keywords

• next-generation-sequencing
• novel genes
• neuromuscular disorders