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Article

[Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].

Orvosi hetilap - 25 Sept 2011

Pikó Henriett, Molnár Mária Judit, Herczegfalvi Agnes, Mayer Péter, Karcagi Veronika

Abstract excerpt

UNLABELLED: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat region on 4q35. In addition, epigenetic modifying factors play a role in the complex pathomechanism of the disease. AIMS: Introduction of a new diagnostic panel in Hungary for the extended molecular analysis of the disease which also provides new insights into the pathomechanism. METHODS: In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 4

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Share to Muscular Dystrophy, Facioscapulohumeral

Share to Repetitive Sequences, Nucleic Acid

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Source

Identifiers

PMID: 21920844
DOI: 10.1556/OH.2011.29179

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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