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Article

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

Annals of neurology - 1 Oct 2011

Nguyen Karine, Walrafen Pierre, Bernard Rafaëlle, Attarian Shahram, Chaix Charlène, Vovan Catherine, Renard Emilie, Dufrane Nathalie, Pouget Jean, Vannier Anne, Bensimon Aaron, Lévy Nicolas

Abstract excerpt

OBJECTIVE: The genetic variation underlying facioscapulohumeral muscular dystrophy (FSHD), 1 of the most common hereditary neuromuscular disorders, is complex, and associated with the contraction of a repeat array (D4Z4) at the subtelomeric end of chromosome 4q. Nonpathogenic variants of 4q and the presence of a homologous array on chromosome 10q make FSHD diagnosis extremely challenging, at least in individuals...

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

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Identifiers

PMID: 22028222
DOI: 10.1002/ana.22513

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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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