Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier fo...
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
About this item
Full title
Author / Creator
Lemmers, Richard Jlf , van der Vliet, Patrick J , Balog, Judit , Goeman, Jelle J , Arindrarto, Wibowo , Krom, Yvonne D , Straasheijm, Kirsten R , Debipersad, Rashmie D , Özel, Gizem , Sowden, Janet , Snider, Lauren , Mul, Karlien , Sacconi, Sabrina , van Engelen, Baziel , Tapscott, Stephen J , Tawil, Rabi and van der Maarel, Silvère M
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4 macrosatellite repeat contraction in chromosome 4q35 (FSHD1) or variants in genes encoding D4Z4 chromatin repressors (FSHD2). A clinical hallmark of FSHD is variability in onset and progression sugge...
Alternative Titles
Full title
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
Authors, Artists and Contributors
Author / Creator
van der Vliet, Patrick J
Balog, Judit
Goeman, Jelle J
Arindrarto, Wibowo
Krom, Yvonne D
Straasheijm, Kirsten R
Debipersad, Rashmie D
Özel, Gizem
Sowden, Janet
Snider, Lauren
Mul, Karlien
Sacconi, Sabrina
van Engelen, Baziel
Tapscott, Stephen J
Tawil, Rabi
van der Maarel, Silvère M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5838976
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5838976
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-017-0015-0
