Title: | The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1 |
Journal : | American journal of human genetics (The), 93, 4 |
Authors: | Sacconi S ; Lemmers RJLF ; Balog J ; van der Vliet PJ ; Lahaut P ; van Nieuwenhuizen MP ; Straasheijm KR ; Debipersad RD ; Vos-Versteeg M ; Salviati L ; Casarin A ; Pegoraro E ; Tawil R ; Bakker E ; Tapscott SJ ; Desnuelle C ; van der Maarel SM |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p. 744-751 |
Languages: | English |
Keywords : | chromatin ; cross-sectional study ; D4Z4 locus ; disease severity ; DUX4 gene ; facioscapulohumeral muscular dystrophy ; family ; gène SMCHD1 ; genetic mutations ; heterozygotes ; myotube ; orbicularis oculi muscle |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2013.08.004 / Pubmed : 24075187 |