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Article

X-linked Emery-Dreifuss muscular dystrophy caused by a novel FHL1 mutation: A case report.

The Journal of international medical research - 1 Mar 2026

Zhang Haimei, Tang Siming, Zhang Wei, Wang Wei, Tang Wei

Abstract excerpt

This study characterizes a multigenerational family with X-linked Emery-Dreifuss muscular dystrophy associated with a novel FHL1 mutation (c.746G>A, p.Cys249Tyr). Among 21 family members, 5 were affected and 3 had died. The affected individuals exhibited progressive limb weakness and muscle atrophy; classical joint contractures were absent or minimal. The proband presented with mild muscle wasting and sinus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41839840
DOI: 10.1177/03000605261423294
PMCID: PMC13009860

Genes

FHL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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