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Article

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

American journal of human genetics - 1 Dec 2004

Lemmers Richard J F L, Wohlgemuth Mariëlle, Frants Rune R, Padberg George W, Morava Eva, van der Maarel Silvere M

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the D4Z4 repeat in the subtelomere of chromosome 4q. Two allelic variants of chromosome 4q (4qA and 4qB) exist in the region distal to D4Z4. Although both variants are almost equally frequent in the population, FSHD is associated exclusively with the 4qA allele. We identified three families with FSHD in which each proband carries two...

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Identifiers

PMID: 15467981
DOI: 10.1086/426035
PMCID: PMC1182148

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Source receipt: pubmed, retrieved 7 Sept 2026.

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