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. 2024 Dec 18;11(1):e200220. doi: 10.1212/NXG.0000000000200220

Figure 1. Location and Architecture of the Intronic CNBP Repeat Array Causative for DM2.

Figure 1

(A) Normal-size alleles are usually interrupted by one or more tetranucleotides (NCTG, N = G, T) and comprise less than 26 CCTG repeat units. (B) Pathogenic repeat expansions are typically uninterrupted and carry 75 or more CCTG repeat units. (C) Proposed updated model of the architecture of CNBP repeat expansions.