Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.

CONCLUSIONS: This study shows that NGS can be a useful tool in the molecular workup of patients seen in a neuromuscular clinic. Evaluating the utility of large panels of a muscle disease-specific NGS panel to investigate the genetic susceptibilities of rhabdomyolysis and/or idiopathic hyperCKemia is a relatively new field. Twenty-eight of the pathogenic and likely pathogenic variants reported here are novel and have not previously been associated with disease. PMID: 29382405 [PubMed - as supplied by publisher]
Source: The Canadian Journal of Neurological Sciences - Category: Neurology Authors: Tags: Can J Neurol Sci Source Type: research