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

✍ Scribed by Lemmers, Richard J.L.F.; de Kievit, Peggy; Sandkuijl, Lodewijk; Padberg, George W.; van Ommen, Gert-Jan B.; Frants, Rune R.; van der Maarel, Silvère M.

Book ID: 109919834
Publisher: Nature Publishing Group
Year: 2002
Tongue: English
Weight: 130 KB
Volume: 32
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng999

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A 3.3-kb Kpnl repeat unit within the tandem repeat locus (D4Z4) and its upstream 2.5-kb HinclllKpnl fragment of the facioscapulohumeral muscular dystrophy (FSHD) gene region at 4q35-qter were sequenced and characterized. The 3.3-kb Kpnl unit was 3303 bp in length and contained two homeodomain sequen