Ontology highlight
ABSTRACT:
SUBMITTER: Lemmers RJ
PROVIDER: S-EPMC4291246 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Lemmers Richard J L F RJ Goeman Jelle J JJ van der Vliet Patrick J PJ van Nieuwenhuizen Merlijn P MP Balog Judit J Vos-Versteeg Marianne M Camano Pilar P Ramos Arroyo Maria Antonia MA Jerico Ivonne I Rogers Mark T MT Miller Daniel G DG Upadhyaya Meena M Verschuuren Jan J G M JJ Lopez de Munain Arregui Adolfo A van Engelen Baziel G M BG Padberg George W GW Sacconi Sabrina S Tawil Rabi R Tapscott Stephen J SJ Bakker Bert B van der Maarel Silvère M SM
Human molecular genetics 20140925 3
Facioscapulohumeral muscular dystrophy (FSHD: MIM#158900) is a common myopathy with marked but largely unexplained clinical inter- and intra-familial variability. It is caused by contractions of the D4Z4 repeat array on chromosome 4 to 1-10 units (FSHD1), or by mutations in the D4Z4-binding chromatin modifier SMCHD1 (FSHD2). Both situations lead to a partial opening of the D4Z4 chromatin structure and transcription of D4Z4-encoded polyadenylated DUX4 mRNA in muscle. We measured D4Z4 CpG methylat ...[more]