A novel copy number variation detection array for the diagnostics of neuromuscular disorders


Nemaline myopathy (NM) is caused by mutations in at least eleven different genes, but most commonly by recessive mutations in the nebulin gene (NEB), a 183 exon gene essential for correct sarcomere structure and function. NEB harbors a 32 kb triplicate region (TRI), in which eight exons are usually typically repeated three times (ex 82–89, 90–97, 98–105), and is prone for copy number variation (CNV). We have designed and validated a new custom-made 4x180k comparative genomic hybridization array (aCGH) design.


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