心源性脑栓塞导致 LMNA 相关肌萎缩性侧索硬化症的诊断。

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

机构信息

Department of Neurology, Hospital Virgen Macarena, Avenida Dr. Fedriani 3, 41071 Sevilla, Spain.

出版信息

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

PMID:21922471

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.

摘要

Emery-Dreifuss 肌营养不良症 (EDMD) 的诊断依据是肌肉骨骼无力和消瘦、关节挛缩和心脏病的综合表现。本文报告了一例因缺血性中风而诊断为 EDMD 的患者。发现 LMNA 基因突变（c.266G>T，p.Arg89Leu）。此前曾有报道称该基因突变仅与孤立性心脏病相关，因此证实了层粘连蛋白病的高度表型异质性。