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

✍ Scribed by Luis Redondo-Vergé; Rabah Ben Yaou; María Fernández-Recio; Luminita Dinca; Pascale Richard; Gisèle Bonne

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 136 KB
Volume: 44
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.22179

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✦ Synopsis

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. Muscle Nerve, 2011

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