Ontology highlight
ABSTRACT:
SUBMITTER: Lemmers RJ
PROVIDER: S-EPMC5838976 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Lemmers Richard Jlf RJ van der Vliet Patrick J PJ Balog Judit J Goeman Jelle J JJ Arindrarto Wibowo W Krom Yvonne D YD Straasheijm Kirsten R KR Debipersad Rashmie D RD Özel Gizem G Sowden Janet J Snider Lauren L Mul Karlien K Sacconi Sabrina S van Engelen Baziel B Tapscott Stephen J SJ Tawil Rabi R van der Maarel Silvère M SM
European journal of human genetics : EJHG 20171121 1
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 suggesting the presence of disease modifiers. A well-known cis modifier is the polymorphic DUX4 polyadenylation signal (PAS) that defines FSHD permissive a ...[more]