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.
Highlights
This study highlights the widening spectrum of phenotypes associated with mutations in known neuromuscular genes
Null mutations in the RYR1 are associated with the arthrogryposis and fetal akinesia phenotype while missense mutations in RYR1 are associated with central core myopathy phenotype
The study led to the identification of novel neuromuscular disease genes (KLHL40, KLHL41, and LMOD3) involved in sarcomere assembly and muscle dysfunction. [1]
Summary
This study highlights the widening spectrum of phenotypes associated with mutations in known neuromuscular genes. Null mutations in the RYR1 are associated with the arthrogryposis and fetal akinesia phenotype while missense mutations in RYR1 are associated with central core myopathy phenotype (allelic heterogeneity). The study led to the identification of novel neuromuscular disease genes (KLHL40, KLHL41, and LMOD3) involved in sarcomere assembly and muscle dysfunction.
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