Article
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
Neurology - 22 Jul 2003
Lemmers R J L F, Osborn M, Haaf T, Rogers M, Frants R R, Padberg G W, Cooper D N, van der Maarel S M, Upadhyaya M
Abstract excerpt
BACKGROUND: The facioscapulohumeral muscular dystrophy (FSHD) locus maps to 4q35 where it is closely linked to D4F104S1 (p13E-11), a probe that recognizes the pathognomonic FSHD deletion involving the subtelomeric D4Z4 tandem repeat array. Extended deletions that include both the more proximal D4F104S1 region and the D4Z4 repeat array proper do, however, occur, albeit rarely, and such deletions can lead to...
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