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

BACKGROUND: Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltransferase 2B (KMT2B), encoding a histone H3 methy...

Descripción completa

Detalles Bibliográficos
Autores principales: Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H., Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J., Zorzi, Giovanna S., Garavaglia, Barbara M., Tartaglia, Marco, Sadikovic, Bekim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359374/
https://www.ncbi.nlm.nih.gov/pubmed/34380541
http://dx.doi.org/10.1186/s13148-021-01145-y

Ejemplares similares

Ejemplares similares