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Nat Genet. 2002 Oct;32(2):235-6. Epub 2002 Sep 23.

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.

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  • 1Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.


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.

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