E-viri
Recenzirano
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Redondo-Vergé, Luis; Yaou, Rabah Ben; Fernández-Recio, María; Dinca, Luminita; Richard, Pascale; Bonne, Gisèle
Muscle & nerve, October 2011, Letnik: 44, Številka: 4Journal Article
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
