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Article

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

European journal of human genetics : EJHG - 1 Jun 2015

Larsen Mirjam, Rost Simone, El Hajj Nady, Ferbert Andreas, Deschauer Marcus, Walter Maggie C, Schoser Benedikt, Tacik Pawel, Kress Wolfram, Müller Clemens R

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder with a wide clinical variability. Contractions of the D4Z4 macrosatellite repeat on chromosome 4q35 are the molecular basis of the pathophysiology. Recently, in a subset of patients without D4Z4 repeat contractions, variants in the SMCHD1 gene have been identified that lead to hypomethylation of D4Z4 and thus DUX4...

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

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Source

Open in PubMed Open full text

Identifiers

PMID: 25370034
DOI: 10.1038/ejhg.2014.191
PMCID: PMC4795050

Genes

SMCHD1
DUX4

Provenance

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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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.PMID 25370034Read ↗

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The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.Semantic proximity Read ↗

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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Semantic proximity Read ↗

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.Semantic proximity Read ↗

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SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.Semantic proximity Read ↗

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Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.Semantic proximity Read ↗

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.Semantic proximity Read ↗

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