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

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Abstract

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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Figure 1: Pulsed-field gel electrophoresis (PFGE) analysis of kindred 25 affected with FSHD using probes p13E-11 4qA and 4qB.

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Acknowledgements

FSHD research is made possible by the Prinses Beatrix Fonds, the Muscular Dystrophy Association USA, the FSH Society, the US National Institutes of Health and the Stichting FSHD. S.V.D.M. is a Gisela Thier Fellow of the Leiden University Medical Center.

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Authors and Affiliations

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

    Richard J.L.F. Lemmers, Peggy de Kievit, Lodewijk Sandkuijl, Gert-Jan B. van Ommen, Rune R. Frants & Silvère M. van der Maarel

  2. Department of Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands

    Lodewijk Sandkuijl

  3. Department of Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands

    George W. Padberg

Authors
  1. Richard J.L.F. Lemmers
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  2. Peggy de Kievit
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  3. Lodewijk Sandkuijl
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  4. George W. Padberg
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  5. Gert-Jan B. van Ommen
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  6. Rune R. Frants
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  7. Silvère M. van der Maarel
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Correspondence to Silvère M. van der Maarel.

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The authors declare no competing financial interests.

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Lemmers, R., de Kievit, P., Sandkuijl, L. et al. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 32, 235–236 (2002). https://doi.org/10.1038/ng999

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