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Article

Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.

Muscle & nerve - 1 Oct 2011

Redondo-Vergé Luis, Yaou Rabah Ben, Fernández-Recio María, Dinca Luminita, Richard Pascale, Bonne Gisèle

Abstract excerpt

The diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) is suggested by the combination of musculoskeletal weakness and wasting, joint contractures, and cardiac disease. Herein we report a patient in whom an ischemic stroke prompted the diagnosis of EDMD. A mutation in the LMNA gene (c.266G>T, p.Arg89Leu) was found. It had been reported previously exclusively with isolated cardiac disease, thus reinforcing the...

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Share to LMNA gene
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Share to Muscular Dystrophy, Emery-Dreifuss

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Source

Identifiers

PMID: 21922471
DOI: 10.1002/mus.22179

Genes

LMNA

Variants

Provenance

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