Myotonic Dystrophy Type 2 (CNBP) Repeat Expansion
Autosomal dominant tetranucleotide (CCTG) repeat expansions in intron 1 of the CNBP gene have been associated with myotonic dystrophy type 2 (DM2). The penetrance of DM2 is associated with the length of tetranucleotide repeats. The relationship between other sequence alterations in CNBP and myotonic dystrophy is unclear. The scope of this assay is limited to repeat expansion analysis of this gene and may not reveal the exact number of repeats present in large expansions.