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van Overveld PG Lemmers RJ Sandkuijl LA Enthoven L Winokur ST Bakels F Padberg GW van Ommen GJ Frants RR van der Maarel SM 《Nature genetics》2003,35(4):315-317
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have an unaltered D4Z4, also have hypomethylation of D4Z4. These results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1. 相似文献
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Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere 总被引:12,自引:0,他引:12
Lemmers RJ de Kievit P Sandkuijl L Padberg GW van Ommen GJ Frants RR van der Maarel SM 《Nature genetics》2002,32(2):235-236
Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele. 相似文献
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