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Article

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

American journal of human genetics - 1 Sept 2009

Gueneau Lucie, Bertrand Anne T, Jais Jean-Philippe, Salih Mustafa A, Stojkovic Tanya, Wehnert Manfred, Hoeltzenbein Maria, Spuler Simone, Saitoh Shinji, Verschueren Annie, Tranchant Christine, Beuvin Maud, Lacene Emmanuelle, Romero Norma B, Heath Simon, Zelenika Diana, Voit Thomas, Eymard Bruno, Ben Yaou Rabah, Bonne Gisèle

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with conduction defects and arrhythmias. So far, only 35% of EDMD cases are genetically elucidated and associated with EMD or LMNA gene mutations, suggesting the existence of additional major genes. By whole-genome scan, we identified linkage to the Xq26.3 locus...

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Source

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Identifiers

PMID: 19716112
DOI: 10.1016/j.ajhg.2009.07.015
PMCID: PMC2771595

Genes

FHL1
EMD
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.PMID 19716112Read ↗

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