Chi D L Nguyen, Aura Cecilia Jimenez-Moreno, Monika Merker, Charles Joseph Bowers, Nikoletta Nikolenko, Andreas Hentschel, Thomas Müntefering, Angus Isham, Tobias Ruck, Matthias Vorgerd, Vera Dobelmann, Genevieve Gourdon, Ulrike Schara-Schmidt, Andrea Gangfuss, Charlotte Schröder, Albert Sickmann, Claudia Gross, Grainne Gorman, Werner Stenzel, Laxmikanth Kollipara, Denisa Hathazi, Sally Spendiff, Cynthia Gagnon, Corinna Preusse, Elise Duchesne, Hanns Lochmüller, Andreas Roos
BACKGROUND AND PURPOSE: Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion [r(CUG)exp ] located in the 3' untranslated region of the DMPK gene. Symptoms include skeletal and cardiac muscle dysfunction and fibrosis. In DM1, there is a lack of established biomarkers in routine clinical practice. Thus, we aimed to identify a blood biomarker with relevance for DM1-pathophysiology and clinical presentation. METHODS: We collected fibroblasts from 11, skeletal muscles from 27, and blood samples from 158 DM1 patients...
March 9, 2023: Journal of Neurology