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Article

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Brain : a journal of neurology - 1 May 2006

Muntoni F, Bonne G, Goldfarb L G, Mercuri E, Piercy R J, Burke M, Yaou R Ben, Richard P, Récan D, Shatunov A, Sewry C A, Brown S C

Abstract excerpt

Individuals with the same genetic disorder often show remarkable differences in clinical severity, a finding generally attributed to the genetic background. We identified two patients with genetically proven Emery-Dreifuss muscular dystrophy (EDMD) who followed an unusual course and had uncommon clinicopathological findings. We hypothesized digenic inheritance and looked for additional molecular explanations....

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Share to Cardiomyopathy, Dilated
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Emery-Dreifuss

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Source

Identifiers

PMID: 16585054
DOI: 10.1093/brain/awl062

Genes

LMNA

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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