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Article

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.

Neurology - 19 Aug 2014

Gaillard Marie-Cécile, Roche Stéphane, Dion Camille, Tasmadjian Armand, Bouget Gwenaëlle, Salort-Campana Emmanuelle, Vovan Catherine, Chaix Charlene, Broucqsault Natacha, Morere Julia, Puppo Francesca, Bartoli Marc, Levy Nicolas, Bernard Rafaëlle, Attarian Shahram, Nguyen Karine, Magdinier Frédérique

Abstract excerpt

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and could not thus far be correlated with disease presence or severity. METHODS: To investigate the link between clinical signs of FSHD and DNA methylation, we explored 95 cases (37 FSHD1, 29 asymptomatic individuals...

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Share to Chromosomes, Human, Pair 4
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Genetic Testing

Share to Heterozygote

Share to Muscular Dystrophy, Facioscapulohumeral

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Source

Identifiers

PMID: 25031281
DOI: 10.1212/WNL.0000000000000708

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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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