Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives
Lisa Rahm, Melissa A. Hale, Renée H.L. Raaijmakers, Alexandra Marrero Quiñones, Tejal Patki, Nicholas E. Johnson, Hans van Bokhoven, Karlien Mul
Topics & Concepts
Myotonic dystrophyMedicineEpigeneticsMyotoniaNeuroscienceTrinucleotide repeat expansionBioinformaticsDiseaseMechanism (biology)PhenotypeMuscular dystrophymicroRNAClinical trialDuchenne muscular dystrophyTranslational researchUntranslated regionSomatic cellGeneticsEpigenesisComputational biologyRNAGenetic heterogeneitySpinal muscular atrophyClinical phenotypePrecision medicineBiologyMolecular geneticsTherapeutic approachClinical researchGenetic Neurodegenerative DiseasesParkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology