Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygo...

Source: Clinical Epigenetics - August 11, 2021 Category: Research Authors: Andrea Ciolfi, Aidin Foroutan, Alessandro Capuano, Lucia Pedace, Lorena Travaglini, Simone Pizzi, Marco Andreani, Evelina Miele, Federica Invernizzi, Chiara Reale, Celeste Panteghini, Maria Iascone, Marcello Niceta, Ralitza H. Gavrilova, Laura Schultz-Rog Tags: Research Source Type: research