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Article

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jul 2005

Buzhov Borian T, Lemmers Richard J L F, Tournev Ivailo, van der Wielen Michiel J R, Ishpekova Boriana, Petkov Radoslav, Petrova Julia, Frants Rune R, Padberg George W, van der Maarel Silvère M

Abstract excerpt

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35. We describe a FSHD family of unusual genetic complexity presenting with two independent mitotic contractions of D4Z4 in two successive generations. In addition, a non-pathogenic FSHD-sized allele of approximately the same size is interfering with the DNA diagnosis in this family. Interestingly,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 15935668
DOI: 10.1016/j.nmd.2005.03.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.PMID 15935668Read ↗

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Somatic mosaicism in FSHD often goes undetected.Semantic proximity Read ↗

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

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