Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

@article{Overveld2003HypomethylationOD,
  title={Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy},
  author={Petra G. M. van Overveld and Richard J. L. F. Lemmers and Lodewijk A. Sandkuijl and Leo Enthoven and Sara Winokur and Floor Bakels and G. W. A. M. Padberg and Gert-Jan B. van Ommen and Rune R. Frants and Silvere M. van der Maarel},
  journal={Nature Genetics},
  year={2003},
  volume={35},
  pages={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… CONTINUE READING
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MuscleNo subtypeMyopathy
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy ( FSHD1 , OMIM 158900 ) is caused by contraction of the D4Z4 repeat array on 4qter .
MyopathyNo subtypeMuscle
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy ( FSHD1 , OMIM 158900 ) is caused by contraction of the D4Z4 repeat array on 4qter .
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy ( FSHD1 , OMIM 158900 ) is caused by contraction of the D4Z4 repeat array on 4qter .
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy ( FSHD1 , OMIM 158900 ) is caused by contraction of the D4Z4 repeat array on 4qter .
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy ( FSHD1 , OMIM 158900 ) is caused by contraction of the D4Z4 repeat array on 4qter .
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy ( FSHD1 , OMIM 158900 ) is caused by contraction of the D4Z4 repeat array on 4qter .
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