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Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 Ballester-Lopez, Alfonsina Koehorst, Emma Linares-Pardo, Ian Núñez-Manchón, Judit Almendrote, Míriam Lucente, Giuseppe Arbex, Andrea Puente-Alonso, Carles Lucia, Alejandro Monckton, Darren G. Cumming, Sarah A. Pintos-Morell, Guillem Coll-Cantí, Jaume Ramos-Fransi, Alba Martínez-Piñeiro, Alicia Nogales, Gisela Universitat Autònoma de Barcelona. Departament de Medicina Myotonic dystrophy type 1 Somatic instability CTG expansion Blood Muscle Skin Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. We studied the variability of the CTG expansion (progenitor, mode, and longest allele, respectively, and genetic instability) in three tissues (blood, muscle, and tissue) from eight patients with DM1. We also studied the association of genetic data with the patients' clinical characteristics. Although genetic instability was confirmed in all the tissues that we studied, our results suggest that CTG expansion is larger in muscle and skin cells compared with peripheral blood leukocytes. While keeping in mind that more research is needed in larger cohorts, we have provided preliminary evidence suggesting that the estimated progenitor CTG size in muscle could be potentially used as an indicator of age of disease onset and muscle function impairment. 2020 Article https://ddd.uab.cat/record/253073 urn:10.3390/genes11111321 urn:oai:ddd.uab.cat:253073 urn:pmcid:PMC7695006 urn:pmc-uid:7695006 urn:pmid:33171734 urn:oai:pubmedcentral.nih.gov:7695006 urn:oai:egreta.uab.cat:publications/6b04e41f-bf2e-4c66-bbab-a631cb27cd94 eng Ministerio de Economía y Competitividad PI15/01756 Ministerio de Economía y Competitividad PI15/00558 Instituto de Salud Carlos III PI18/00713 Ministerio de Economía y Competitividad CD14/00032 Ministerio de Economía y Competitividad CM16/00016 Genes ; Vol. 11 (november 2020) open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0/ application/pdf