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  • Molecular assay reagents intended to identify variants in the majority of genes known to be associated with metabolic myopathies, a collection of genetic diseases caused by deficiencies in energy metabolism in muscles. Genetic variants at multiple loci have been associated with metabolic myopathies. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in the majority of metabolic myopathy-associated loci simultaneously.
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