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Muscle Nerve. 2011 Oct;44(4):587-9. doi: 10.1002/mus.22179.

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

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  • 1Department of Neurology, Hospital Virgen Macarena, Avenida Dr. Fedriani 3, 41071 Sevilla, Spain. lredondov@meditex.es

Abstract

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 high phenotypic heterogeneity of laminopathies.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
21922471
[PubMed - indexed for MEDLINE]
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