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

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,...

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Bibliographic Details
Published in:Muscle & nerve 2011-10, Vol.44 (4), p.587-589
Main Authors: Redondo-Vergé, Luis, Yaou, Rabah Ben, Fernández-Recio, María, Dinca, Luminita, Richard, Pascale, Bonne, Gisèle
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
cardiomyopathy
Diseases of striated muscles. Neuromuscular diseases
Emery-Dreifuss muscular dystrophy
Humans
Lamin Type A - genetics
laminopathies
LMNA
Male
Medical sciences
Muscular Dystrophy, Emery-Dreifuss - genetics
Muscular Dystrophy, Emery-Dreifuss - physiopathology
Mutation
Myocardial Ischemia - complications
Neurology
stroke
Stroke - complications
Stroke - etiology
Vascular diseases and vascular malformations of the nervous system
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Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.22179