The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.
van der Maarel
Silvère M
SM
Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands. maarel@lumc.nl
Frants
Rune R
RR
D000483:Alleles; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D044127:Epigenesis, Genetic; D005260:Female; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009030:Mosaicism; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000209:etiology / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D016615:Telomere / Q000235:genetics