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: Wu L, Brady L, Shoffner J, Tarnopolsky MA Tags: Can J Neurol Sci Source Type: research
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