Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 - Lemmers, Richard J L F; Tawil, Rabi; Petek, Lisa M; Balog, Judit; Block, Gregory J; Santen, Gijs W E; Amell, Amanda M; van der Vliet, Patrick J; Almomani, Rowida; Straasheijm, Kirsten R; Krom, Yvonne D; Klooster, Rinse; et al. (Nature genetics, 2012)
Keywords: 631/208/176; 631/208/2489/144; 692/699/1670/1669; Adult; Aged; Agriculture; Allelomorphism; Animal Genetics and Genomics; Biological and medical sciences; Biomedicine; Cancer Research; Chromosomal Proteins, Non-Histone - genetics; Chromosomes; Chromosomes, Human, Pair 18 - genetics; CpG Islands - genetics; Development Biology; Diseases of striated muscles. Neuromuscular diseases; DNA Methylation - genetics; Dystrophy; Epigenesis, Genetic; Facioscapulohumeral muscular dystrophy; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetic aspects; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Health aspects; Heredity - genetics; Homeodomain Proteins - genetics; Human Genetics; Humans; letter; Life Sciences; Male; Medical sciences; Middle Aged; Muscular Dystrophy, Facioscapulohumeral - genetics; Mutation; Neurology; Physiological aspects; Proteins; France; United States; Netherlands; Nervous system diseases; Neuromuscular diseases; Allele; Inheritance(genetics); Mutation; Facioscapulohumeral; Muscular dystrophy; Genetic disease