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. 2014 Apr 10;9(4):e93983. doi: 10.1371/journal.pone.0093983

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© 2014 Perfetti et al

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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A) EAA analysis identified an AS event on exons 11 and 12 of LIMCH1 mRNA transcript ENST00000313875. The AS area is enlarged and exons 11 and 12, less frequently included in DM2 patients, are highlighted in solid gray. B and D) The box plots show the decreased expression of Affymetrix probe set 2725148 recognizing exon 11 (B) and 2725151 recognizing exon 12 (D), in DM2 patients compared to CTR (n = 10, **** p<0.0001). Values are normalized for the levels of the whole transcript. The splice index (SI) is indicated. C and E) Validation qPCR assays were performed using the specific primer pairs indicated as black arrowhead in panel A. Results are shown as fold change (DM2 = 19, CTR = 15; ** p<0.01). Only LIMCH1 exon 11 skipping was validated.