Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation pro...
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
About this item
Full title
Author / Creator
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 and Sadikovic, Bekim
Publisher
Germany: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
Germany: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 methyltransferase, have been associated with a childhood-onset, pro...
Alternative Titles
Full title
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8359374
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8359374
Other Identifiers
ISSN
1868-7075,1868-7083
E-ISSN
1868-7083,1868-7075
DOI
10.1186/s13148-021-01145-y
